ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=)

dbSNP: rs747643987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192375 SCV000246347 uncertain significance not specified 2015-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001721245 SCV000533181 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001151409 SCV001312531 uncertain significance Pyridoxine-dependent epilepsy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001151409 SCV001683305 likely benign Pyridoxine-dependent epilepsy 2024-01-27 criteria provided, single submitter clinical testing

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