ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) (rs146927771)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970533 SCV001118115 likely benign Propionic acidemia 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000970533 SCV001266739 uncertain significance Propionic acidemia 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.
GeneDx RCV001558271 SCV001780183 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing Identified in an individual with seizures who was also compound heterozygous for a second variant in PCCA, however, detailed clinical and biochemical results were not provided (Fernndez-Marmiesse et al., 2019); This variant is associated with the following publications: (PMID: 31780880)
Nilou-Genome Lab RCV000970533 SCV001806089 uncertain significance Propionic acidemia 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000970533 SCV001463914 benign Propionic acidemia 2020-04-17 no assertion criteria provided clinical testing

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