ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.328A>G (p.Met110Val)

dbSNP: rs1717919066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324599 SCV001515559 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-07-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 110 of the MCCC1 protein (p.Met110Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. RCV001324599 SCV002079122 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-05-11 no assertion criteria provided clinical testing

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