ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)

gnomAD frequency: 0.00039  dbSNP: rs146876119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195913 SCV000252064 likely benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340991 SCV000371625 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000195913 SCV001121776 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000195913 SCV001148227 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing

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