Submissions for variant NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)

gnomAD frequency: 0.00158  dbSNP: rs150555106

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723557	SCV000232565	uncertain significance	not provided	2014-12-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000723557	SCV000239111	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25851414)
Fulgent Genetics, Fulgent Genetics	RCV000515420	SCV000611418	uncertain significance	Propionic acidemia	2017-05-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000515420	SCV000885887	uncertain significance	Propionic acidemia	2023-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000515420	SCV001005964	benign	Propionic acidemia	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723557	SCV001154068	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PCCB: PM5, BS1, BS2
Illumina Laboratory Services, Illumina	RCV000515420	SCV001429881	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV000515420	SCV001737218	uncertain significance	Propionic acidemia	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000515420	SCV001460371	benign	Propionic acidemia	2020-01-10	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937633	SCV004750699	likely benign	PCCB-related disorder	2019-02-20	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).