Submissions for variant NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)

gnomAD frequency: 0.00088  dbSNP: rs118169528

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000236220	SCV000267435	uncertain significance	Propionic acidemia	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV000236220	SCV000382017	benign	Propionic acidemia	2018-03-06	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000236220	SCV000631900	benign	Propionic acidemia	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000611609	SCV000730302	benign	not specified	2017-05-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000236220	SCV001139373	uncertain significance	Propionic acidemia	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000236220	SCV001652763	uncertain significance	Propionic acidemia	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003401094	SCV004135101	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	PCCA: BS1, BS2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	RCV000236220	SCV000256849	pathogenic	Propionic acidemia	2012-01-01	flagged submission	research
Natera, Inc.	RCV000236220	SCV001463918	uncertain significance	Propionic acidemia	2020-04-17	no assertion criteria provided	clinical testing