ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)

dbSNP: rs1580262373
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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 RCV000794344 SCV000933744 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2018-10-11 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. 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 C0"). This variant has not been reported in the literature in individuals with MCCC2-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces tyrosine with cysteine at codon 42 of the MCCC2 protein (p.Tyr42Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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