ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)

dbSNP: rs751755306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001327311 SCV001518379 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 686 of the MCCC1 protein (p.Ile686Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs751755306, ExAC 0.006%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001327311 SCV002079079 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-05-17 no assertion criteria provided clinical testing

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