ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.844C>T (p.Arg282Cys)

gnomAD frequency: 0.00005  dbSNP: rs141833490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037499 SCV002115544 uncertain significance Juvenile onset Parkinson disease 19A 2022-08-16 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1345716). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs141833490, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 282 of the DNAJC6 protein (p.Arg282Cys).
Breakthrough Genomics, Breakthrough Genomics RCV004691448 SCV005186740 uncertain significance not provided criteria provided, single submitter not provided

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