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: Y axis 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 Variants with at least 2 submissions 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 kind of conflict
47 22 0 20 17 1 2 33

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 risk factor
pathogenic 0 3 1 0 0 1
likely pathogenic 1 0 0 0 0 0
uncertain significance 0 1 0 4 1 0
likely benign 0 0 8 0 9 0
benign 0 0 4 8 0 0

Condition to condition summary #

Total conditions: 12
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 11 0 13 8 0 1 21
not provided 0 18 0 2 9 0 0 11
Dystonia 0 7 0 6 2 0 0 8
Glucose transporter type 1 deficiency syndrome 0 7 0 6 2 0 0 8
History of neurodevelopmental disorder 0 11 0 3 1 0 0 4
Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 2 0 1 2 0 0 3
GLUT1 deficiency syndrome 1 0 4 0 0 2 0 0 2
Epilepsy, idiopathic generalized, susceptibility to, 12 0 1 0 0 0 1 0 1
Epilepsy; Microcephaly; intellectual deficiency 0 0 0 1 0 0 0 1
GLUT1 deficiency syndrome 1, autosomal recessive 101 0 0 1 0 0 0 1
Paroxysmal dystonia 0 0 0 0 0 0 1 1
Stomatin-deficient cryohydrocytosis with neurologic defects 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_006516.2(SLC2A1):c.18G>A (p.Lys6=) rs577329624
NM_006516.2(SLC2A1):c.972+7delC rs531385270
NM_006516.3(SLC2A1):c.1005C>G (p.Thr335=) rs763664146
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554
NM_006516.3(SLC2A1):c.1170C>T (p.Ile390=) rs2236574
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205
NM_006516.3(SLC2A1):c.1372C>A (p.Arg458=) rs13306758
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.3(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.19-5C>T rs376653618
NM_006516.3(SLC2A1):c.276-7T>C rs369273744
NM_006516.3(SLC2A1):c.276-9C>T rs529579952
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.313G>A (p.Val105Met) rs577667739
NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006516.3(SLC2A1):c.507C>T (p.Leu169=) rs115541691
NM_006516.3(SLC2A1):c.543C>T (p.Gly181=) rs377674001
NM_006516.3(SLC2A1):c.679+4C>A rs139492241
NM_006516.3(SLC2A1):c.679+4C>T rs139492241
NM_006516.3(SLC2A1):c.679+7G>T rs13306757
NM_006516.3(SLC2A1):c.766_767delAAinsGT (p.Lys256Val) rs80359822
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808
NM_006516.3(SLC2A1):c.885G>A (p.Thr295=) rs144685583
NM_006516.3(SLC2A1):c.894C>T (p.Phe298=) rs140825318
NM_006516.3(SLC2A1):c.906G>T (p.Gly302=) rs55693364
NM_006516.3(SLC2A1):c.987G>A (p.Glu329=) rs201989024
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) rs80359826

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