ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.154C>G (p.Arg52Gly)

gnomAD frequency: 0.00001  dbSNP: rs547312338
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934912 SCV002134621 uncertain significance Juvenile onset Parkinson disease 19A 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 52 of the DNAJC6 protein (p.Arg52Gly). This variant is present in population databases (rs547312338, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1363460). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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