ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)

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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 RCV002606637 SCV003505163 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-11-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant is present in population databases (rs751133336, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 385 of the MCCC2 protein (p.Thr385Ala). 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 MCCC2 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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