Submissions for variant NM_000284.4(PDHA1):c.507G>A (p.Ala169=)

gnomAD frequency: 0.00077  dbSNP: rs141862527

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725565	SCV000337839	uncertain significance	not provided	2015-11-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000725565	SCV000715890	likely benign	not provided	2019-10-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088476	SCV001054808	benign	Pyruvate dehydrogenase E1-alpha deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338844	SCV002644125	likely benign	Inborn genetic diseases	2018-01-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001835752	SCV002076925	likely benign	Pyruvate dehydrogenase complex deficiency	2019-10-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920086	SCV004731804	likely benign	PDHA1-related disorder	2023-09-01	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).