ClinVar Miner

Variants with conflicting interpretations studied for Glutaric aciduria, type 1

Coded as:
Minimum review status of the submission for Glutaric aciduria, type 1: Y axis collection method of the submission for Glutaric aciduria, type 1:
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
118 16 0 27 1 0 17 43

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
Glutaric aciduria, type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 20 6 0 0
likely pathogenic 24 0 6 0 3
uncertain significance 7 6 0 0 0
likely benign 0 0 1 0 1
benign 0 1 0 3 0

Condition to condition summary #

Total conditions: 4
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
Glutaric aciduria, type 1 138 10 0 21 0 0 9 29
not provided 0 9 0 18 1 0 11 29
not specified 0 3 0 3 0 0 0 3
Glutaric acidemia 0 2 0 0 0 0 2 2

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000159.4(GCDH):c.*165A>G rs8012
NM_000159.4(GCDH):c.*288G>T rs9384
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.4(GCDH):c.636-1G>A rs398123195
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972

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