ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)

gnomAD frequency: 0.00001  dbSNP: rs1747390697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762954 SCV001988968 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing Identified in the presence of a second variant in an asymptomatic newborn from a cohort of individuals with positive newborn screen for 3-MCC deficiency (Fonseca et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27601257)
Labcorp Genetics (formerly Invitae), Labcorp RCV002543946 SCV003525725 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-06-13 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 MCCC2 protein function. ClinVar contains an entry for this variant (Variation ID: 1303496). This missense change has been observed in individual(s) with MCCC2-related conditions (PMID: 27601257). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 461 of the MCCC2 protein (p.Phe461Val).

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