ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)

dbSNP: rs1566642089
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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 RCV001929350 SCV002201881 uncertain significance Pyruvate dehydrogenase E2 deficiency 2022-10-13 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DLAT 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. ClinVar contains an entry for this variant (Variation ID: 1426316). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 568 of the DLAT protein (p.Leu568Ser).

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