ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)

gnomAD frequency: 0.00001  dbSNP: rs1716633366
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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 RCV001310014 SCV001499535 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-03-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MCCC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 237 of the MCCC1 protein (p.Lys237Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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