ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.976G>C (p.Val326Leu) (rs35560997)

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Total submissions: 8
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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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127418 SCV000341052 benign not specified 2016-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 2019-12-31 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 Praxis fuer Humangenetik Tuebingen RCV000224806 SCV001148229 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000245 SCV001156796 benign Pyruvate dehydrogenase E3-binding protein deficiency 2019-04-26 criteria provided, single submitter clinical testing

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