ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.29C>T (p.Ser10Phe)

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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 RCV003065448 SCV003458551 uncertain significance Pyruvate dehydrogenase E3 deficiency 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 10 of the DLD protein (p.Ser10Phe). This variant is present in population databases (rs757407115, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DLD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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