Submissions for variant NM_003477.3(PDHX):c.976G>C (p.Val326Leu)

gnomAD frequency: 0.00574  dbSNP: rs35560997

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127418	SCV000170981	benign	not specified	2014-01-13	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224806	SCV000281156	likely benign	not provided	2015-08-19	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000127418	SCV000341052	benign	not specified	2016-05-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000245	SCV000371629	benign	Pyruvate dehydrogenase E3-binding protein deficiency	2018-01-13	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.
Invitae	RCV000224806	SCV001111728	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000988526	SCV001138274	likely benign	Pyruvate dehydrogenase E1-alpha deficiency	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224806	SCV001148229	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	PDHX: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000245	SCV001156796	benign	Pyruvate dehydrogenase E3-binding protein deficiency	2023-09-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925258	SCV004738415	likely benign	PDHX-related condition	2019-03-19	criteria provided, single submitter	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).