ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)

gnomAD frequency: 0.00001  dbSNP: rs759809368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808719 SCV000948836 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-07-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs759809368, ExAC 0.001%). 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 disease. This sequence change replaces lysine with arginine at codon 348 of the MCCC2 protein (p.Lys348Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.
Natera, Inc. RCV000808719 SCV002084913 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-11-23 no assertion criteria provided clinical testing

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