ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)

gnomAD frequency: 0.00001  dbSNP: rs1864460815
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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 RCV002048112 SCV002297380 uncertain significance Pyruvate dehydrogenase E2 deficiency 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 557 of the DLAT protein (p.Glu557Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. 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.

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