ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002685202 SCV003725588 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.1100T>C (p.V367A) alteration is located in exon 12 (coding exon 12) of the MCCC2 gene. This alteration results from a T to C substitution at nucleotide position 1100, causing the valine (V) at amino acid position 367 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497969 SCV004291313 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-06-16 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 not expected to disrupt MCCC2 protein function. ClinVar contains an entry for this variant (Variation ID: 2385438). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. This variant is present in population databases (rs773098136, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 367 of the MCCC2 protein (p.Val367Ala).

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