ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002629932 SCV003524333 uncertain significance Autosomal recessive early-onset Parkinson disease 7 2022-04-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs760020407, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 48 of the PARK7 protein (p.Arg48Cys). This variant has not been reported in the literature in individuals affected with PARK7-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.

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