ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.1852C>T (p.Arg618Cys)

gnomAD frequency: 0.00004  dbSNP: rs377366345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001924418 SCV002207048 uncertain significance Juvenile onset Parkinson disease 19A 2021-09-26 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs377366345, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 618 of the DNAJC6 protein (p.Arg618Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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