ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)

gnomAD frequency: 0.00001  dbSNP: rs780072787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002542872 SCV003520847 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2022-03-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 125 of the MCCC1 protein (p.Ile125Val). This variant is present in population databases (rs780072787, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 989681). 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 C0". 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. RCV001277563 SCV001464523 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-21 no assertion criteria provided clinical testing

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