ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)

dbSNP: rs1716671130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320640 SCV001511435 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 177 of the MCCC1 protein (p.Val177Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. 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. 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.
Natera, Inc. RCV001320640 SCV002079119 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-10-14 no assertion criteria provided clinical testing

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