ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)

dbSNP: rs531994517
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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 RCV001235788 SCV001408493 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-03-17 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 MCCC2 protein function. ClinVar contains an entry for this variant (Variation ID: 203809). This missense change has been observed in individuals with clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 394 of the MCCC2 protein (p.Arg394Ile).

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