ClinVar Miner

Submissions for variant NM_004562.2(PRKN):c.8-?_171+?del

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Total submissions: 2
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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

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