ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.389G>T (p.Gly130Val)

dbSNP: rs2108528600
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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 RCV001925065 SCV002173866 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-01-06 criteria provided, single submitter clinical testing 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 MCCC1 protein function. This variant has not been reported in the literature in individuals with MCCC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 130 of the MCCC1 protein (p.Gly130Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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