ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)

gnomAD frequency: 0.00001  dbSNP: rs756664143
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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 RCV001900127 SCV002121579 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-07-13 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: 1362338). This missense change has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (Invitae). This variant is present in population databases (rs756664143, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 49 of the MCCC2 protein (p.Met49Ile).

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