ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)

gnomAD frequency: 0.00001  dbSNP: rs944412136
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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 RCV001871317 SCV002157034 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 162 of the MCCC2 protein (p.Gln162Lys). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1385259). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MCCC2 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004988855 SCV005618611 uncertain significance Inborn genetic diseases 2024-06-26 criteria provided, single submitter clinical testing The c.484C>A (p.Q162K) alteration is located in exon 5 (coding exon 5) of the MCCC2 gene. This alteration results from a C to A substitution at nucleotide position 484, causing the glutamine (Q) at amino acid position 162 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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