ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)

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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 RCV003016784 SCV003319817 uncertain significance 3-hydroxyisobutyryl-CoA hydrolase deficiency 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 380 of the HIBCH protein (p.Gly380Glu). This variant is present in population databases (rs768695844, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HIBCH-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 HIBCH 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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