Submissions for variant NM_000284.4(PDHA1):c.693G>A (p.Thr231=)

gnomAD frequency: 0.00005  dbSNP: rs138237215

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437837	SCV000521557	likely benign	not specified	2017-09-08	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.
Ambry Genetics	RCV002318413	SCV000850703	likely benign	Inborn genetic diseases	2017-05-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000916825	SCV001062079	benign	Pyruvate dehydrogenase E1-alpha deficiency	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437177	SCV004166690	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PDHA1: BP4, BP7, BS2
Natera, Inc.	RCV001828410	SCV002076928	likely benign	Pyruvate dehydrogenase complex deficiency	2019-12-13	no assertion criteria provided	clinical testing