ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)

dbSNP: rs1553848994
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653491 SCV000775371 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-10-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with MCCC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 684 of the MCCC1 protein (p.His684Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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