ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.589C>A (p.Leu197Met) (rs139052284)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200463 SCV000252061 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing The L197M missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Server reports L197M was observed in 18/4404 (0.4%) alleles from individuals of African American background. The amino acid change is conservative in that both Leucine and Methionine are uncharged, non-polar amino acids. This change occurs at a position in the PDHX protein that is highly conserved in mammals. In-silico analyses are not consistent in their predictions of whether or not L197M is damaging to the PDHX protein. Therefore, based on the currently available information, it is unclear whether L197M is a disease-causing mutation or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000763736 SCV000894621 uncertain significance Pyruvate dehydrogenase E3-binding protein deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000200463 SCV001115590 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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