ClinVar Miner

Variants with conflicting interpretations studied for Succinate-semialdehyde dehydrogenase deficiency

Coded as:
Minimum review status of the submission for Succinate-semialdehyde dehydrogenase deficiency: Collection method of the submission for Succinate-semialdehyde dehydrogenase deficiency:
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
627 66 0 13 14 0 11 38

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
Succinate-semialdehyde dehydrogenase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 3 0 0
likely pathogenic 8 0 8 0 0
uncertain significance 3 8 0 14 0
likely benign 0 0 14 0 5
benign 0 0 0 5 0

Condition to condition summary #

Total conditions: 1
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
Succinate-semialdehyde dehydrogenase deficiency 627 66 0 13 14 0 11 38

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.354+14G>A rs572861590 0.00091
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422 0.00019
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu) rs373315916 0.00009
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508 0.00006
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=) rs188108571 0.00004
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=) rs775722631 0.00003
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) rs4646837 0.00003
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=) rs760461822 0.00003
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=) rs771829991 0.00002
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr) rs953870735 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1343+1del rs1561879386
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe) rs578023593
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664

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