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

dbSNP: rs142646074

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086663	SCV000631904	likely benign	Propionic acidemia	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000525403	SCV001149066	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PCCA: BP4
Illumina Laboratory Services, 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.
GeneDx	RCV000525403	SCV001797042	likely benign	not provided	2021-01-13	criteria provided, single submitter	clinical testing
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.
PreventionGenetics, part of Exact Sciences	RCV003915506	SCV004731354	likely benign	PCCA-related disorder	2019-12-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).