ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)

gnomAD frequency: 0.00001  dbSNP: rs753735697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644024 SCV000765711 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 222 of the MCCC2 protein (p.Tyr222Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs753735697, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with MCCC2-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. RCV000644024 SCV002084294 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-10-16 no assertion criteria provided clinical testing

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