ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)

gnomAD frequency: 0.00001  dbSNP: rs748028684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001782421 SCV002127370 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-12-08 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. This missense change has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 16835865). This variant is present in population databases (rs748028684, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 101 of the MCCC2 protein (p.Ser101Phe).
Baylor Genetics RCV001782421 SCV004194382 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-07 criteria provided, single submitter clinical testing

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