ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)

gnomAD frequency: 0.00004  dbSNP: rs782527135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001903189 SCV002158912 uncertain significance Pyruvate dehydrogenase E2 deficiency 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 325 of the DLAT protein (p.Pro325Leu). This variant is present in population databases (rs782527135, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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