ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)

dbSNP: rs1747472048
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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 RCV001051241 SCV001215386 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-11-26 criteria provided, single submitter clinical testing 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 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. This variant has not been reported in the literature in individuals with MCCC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 522 of the MCCC2 protein (p.Ser522Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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