ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)

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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 RCV002298962 SCV002593372 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2022-08-08 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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. This variant has not been reported in the literature in individuals affected with PDHA1-related conditions. This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 80 of the PDHA1 protein (p.Gln80Pro). This variant is not present in population databases (gnomAD no frequency).

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