ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) (rs142646074)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086663 SCV000631904 likely benign Propionic acidemia 2020-12-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000525403 SCV001149066 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086663 SCV001273097 uncertain significance Propionic acidemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Division of Genetic Medicine, Lausanne University Hospital RCV001086663 SCV001468738 benign Propionic acidemia 2021-01-13 no assertion criteria provided clinical testing The p.Val673Leu in PCCA has been found in homozygous state in three individuals without a phenotype of propionicacidemia. It has been previously identified as VUS but was never found in previous publications.
GeneDx RCV000525403 SCV001797042 likely benign not provided 2021-01-13 no assertion criteria provided clinical testing

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