ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)

gnomAD frequency: 0.00001  dbSNP: rs1199145486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595406 SCV000704863 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV001060906 SCV001225626 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-12-06 criteria provided, single submitter clinical testing 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. 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 MCCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 499398). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 272 of the MCCC2 protein (p.Val272Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.
Natera, Inc. RCV001271400 SCV001452526 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-16 no assertion criteria provided clinical testing

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