ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)

dbSNP: rs782810132
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040101 SCV001203657 uncertain significance Pyruvate dehydrogenase E2 deficiency 2019-11-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DLAT-related conditions. This variant is present in population databases (rs782810132, ExAC 0.02%). This sequence change replaces phenylalanine with serine at codon 571 of the DLAT protein (p.Phe571Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine.

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