ClinVar Miner

Variants with conflicting interpretations studied for GLUT1 deficiency syndrome 1, autosomal recessive

Coded as:
Minimum review status of the submission for GLUT1 deficiency syndrome 1, autosomal recessive: Collection method of the submission for GLUT1 deficiency syndrome 1, autosomal recessive:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
479 143 0 47 40 0 17 93

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
GLUT1 deficiency syndrome 1, autosomal recessive pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 14 6 0 0
likely pathogenic 0 0 3 1 0
uncertain significance 4 4 0 12 1
likely benign 0 0 23 0 17
benign 0 0 5 16 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
not provided 0 124 0 24 33 0 16 66
not specified 0 44 0 22 10 0 2 34
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 7 0 2 5 0 0 7
SLC2A1-related disorder 0 14 0 4 1 0 0 5
Developmental disorder 0 0 0 1 0 0 0 1
GLUT1 deficiency syndrome 1, autosomal recessive 713 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys) rs148518827 0.00031
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_006516.4(SLC2A1):c.18G>A (p.Lys6=) rs577329624 0.00012
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=) rs377674001 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met) rs751573593 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr) rs199639208 0.00006
NM_006516.4(SLC2A1):c.276-8G>A rs373084446 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.114+18G>A rs745580526 0.00004
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met) rs142986731 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=) rs398124230 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys) rs147249343 0.00003
NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys) rs756304012 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_006516.4(SLC2A1):c.1024G>A (p.Ala342Thr) rs763241827 0.00001
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) rs794726996 0.00001
NM_006516.4(SLC2A1):c.19-4G>A rs398124229 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln) rs587784395 0.00001
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del)
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=) rs769506294
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) rs398123069
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=) rs1181822928
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu) rs1570593865
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.276-2A>G
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg) rs1085308009
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro) rs2124449372
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser) rs796053247
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe) rs1570592813
NM_006516.4(SLC2A1):c.679+4C>A rs139492241
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006516.4(SLC2A1):c.679+7G>A rs13306757
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=) rs1570592618
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His) rs2124448410
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro) rs886041633
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.