ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.885C>T (p.Tyr295=) (rs139192015)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute of Mental Health and Neurosciences RCV000171559 SCV000223744 uncertain significance Glutaric aciduria, type 1 2015-03-13 criteria provided, single submitter research
Invitae RCV000171559 SCV001076743 likely benign Glutaric aciduria, type 1 2020-12-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000171559 SCV001286373 uncertain significance Glutaric aciduria, type 1 2018-01-12 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.

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