Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000007456 | SCV000563922 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 2019-12-04 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the PRKN gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Similar deletions of exon 2 have been observed to be homozygous or in combination with another PRKN variant in many individuals affected with early-onset Parkinson's disease (PMID: 17914726, 21993715, 23880019). Loss-of-function variants in PRKN are known to be pathogenic (PMID: 10072423, 20301651, 22956510). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007456 | SCV000027656 | pathogenic | Autosomal recessive juvenile Parkinson disease 2 | 1998-10-24 | no assertion criteria provided | literature only |