ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) (rs146445744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199419 SCV000252063 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing p.Glu214Gln (GAG>CAG): c.640 G>C in exon 5 of the PDHX gene (NM_003477.2) A variant of unknown significance has been identified in the PDHX gene. The E214Q missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E214Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position in the PDHX protein that is conserved in mammals. In-silico analyses are not consistent in their predictions of whether or not E214Q is damaging to the PDHX protein. Therefore, based on the currently available information, it is unclear whether E214Q is a disease-causing mutation or a rare benign variant.The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000884220 SCV001027579 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.

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