ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter)

dbSNP: rs864622011
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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 RCV000801660 SCV000941448 pathogenic Juvenile onset Parkinson disease 19A 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg152*) in the DNAJC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAJC6 are known to be pathogenic (PMID: 22563501, 23211418, 26528954). This variant is not present in population databases (gnomAD no frequency). 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: 219301). For these reasons, this variant has been classified as Pathogenic.
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere RCV000204926 SCV000259009 uncertain significance Malignant tumor of prostate no assertion criteria provided research

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