ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.438G>A (p.Gly146=)

gnomAD frequency: 0.30058  dbSNP: rs1126551
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367428 SCV000445824 benign Pyruvate dehydrogenase E1-beta 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 RCV000367428 SCV001729264 benign Pyruvate dehydrogenase E1-beta deficiency 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000367428 SCV001738530 benign Pyruvate dehydrogenase E1-beta deficiency 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000676649 SCV001751419 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000367428 SCV002029528 benign Pyruvate dehydrogenase E1-beta deficiency 2021-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117898 SCV000152172 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676649 SCV000802442 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Natera, Inc. RCV001831909 SCV002082365 benign Pyruvate dehydrogenase phosphatase deficiency 2019-11-19 no assertion criteria provided clinical testing

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