ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)

gnomAD frequency: 0.00003  dbSNP: rs549784997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029528 SCV002306010 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 234 of the MCCC2 protein (p.Arg234Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs549784997, ExAC 0.03%). This variant has not been reported in the literature in individuals with MCCC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Revvity Omics, Revvity RCV002029528 SCV003810815 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003269100 SCV003946968 uncertain significance Inborn genetic diseases 2023-04-06 criteria provided, single submitter clinical testing The c.700C>T (p.R234C) alteration is located in exon 7 (coding exon 7) of the MCCC2 gene. This alteration results from a C to T substitution at nucleotide position 700, causing the arginine (R) at amino acid position 234 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004752127 SCV005363537 uncertain significance MCCC2-related disorder 2024-03-20 no assertion criteria provided clinical testing The MCCC2 c.700C>T variant is predicted to result in the amino acid substitution p.Arg234Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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