ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.3045A>T (p.Gln1015His)

dbSNP: rs2129641086
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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 RCV001953377 SCV002220286 uncertain significance Glycine encephalopathy 2021-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GLDC-related conditions. This sequence change replaces glutamine with histidine at codon 1015 of the GLDC protein (p.Gln1015His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). 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 not expected to disrupt GLDC 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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