Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001420732 | SCV003523301 | uncertain significance | Juvenile onset Parkinson disease 19A | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 13 of the DNAJC6 gene. It does not directly change the encoded amino acid sequence of the DNAJC6 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Parkinson disease (PMID: 26528954). ClinVar contains an entry for this variant (Variation ID: 1098746). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |
Gene |
RCV001420732 | SCV001623071 | not provided | Juvenile onset Parkinson disease 19A | no assertion provided | literature only | Early-onset parkinsonism |