ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)

dbSNP: rs1862828399
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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 RCV002009594 SCV002305870 uncertain significance Pyruvate dehydrogenase E2 deficiency 2023-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DLAT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 299 of the DLAT protein (p.Asp299Tyr). ClinVar contains an entry for this variant (Variation ID: 1507831). 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. 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.

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