ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)

dbSNP: rs149389595
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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 RCV001348099 SCV001542387 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-03-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 arginine with serine at codon 254 of the MCCC1 protein (p.Arg254Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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