ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)

gnomAD frequency: 0.00036  dbSNP: rs146445744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000884220 SCV000252063 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Invitae RCV000884220 SCV001027579 benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105023 SCV001261937 uncertain significance Pyruvate dehydrogenase E3-binding protein deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002515422 SCV003678882 benign Inborn genetic diseases 2022-01-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.

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