Submissions for variant NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)

gnomAD frequency: 0.00009  dbSNP: rs199879809

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907000	SCV001051674	benign	Pyruvate dehydrogenase E1-alpha deficiency	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573190	SCV002498104	likely benign	not provided	2022-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002434203	SCV002748246	likely benign	Inborn genetic diseases	2018-11-17	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001573190	SCV005209133	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001276607	SCV001463036	likely benign	Pyruvate dehydrogenase complex deficiency	2020-06-09	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573190	SCV001798657	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573190	SCV001971960	likely benign	not provided		no assertion criteria provided	clinical testing