ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs)

dbSNP: rs1645848679
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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 RCV001915434 SCV002177407 pathogenic Juvenile onset Parkinson disease 19A 2021-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala227Argfs*106) 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).

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