ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.894A>G (p.Gly298=)

gnomAD frequency: 0.00023  dbSNP: rs1329322647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000940803 SCV001086671 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001166393 SCV001328769 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2018-03-30 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 RCV001166393 SCV001728635 benign Pyruvate dehydrogenase E1-alpha deficiency 2018-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826985 SCV002076934 likely benign Pyruvate dehydrogenase complex deficiency 2020-03-11 no assertion criteria provided clinical testing

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