ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)

gnomAD frequency: 0.00004  dbSNP: rs199657839
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000289814 SCV000332310 likely benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514167 SCV000610372 likely benign not provided 2017-02-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079680 SCV001315768 uncertain significance Autosomal recessive juvenile Parkinson disease 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Institute Rare Disease Group, Broad Institute RCV001079680 SCV001435261 likely benign Autosomal recessive juvenile Parkinson disease 2 criteria provided, single submitter research The p.Arg334Cys variant in PARK2 has been identified in 2 homozygous individuals and 1 heterozygous individual with Parkinson disease, segregated with disease in 2 relatives from 1 family (PMID: 10824074, 24082139, 22523156), but has also been identified in >1% of South Asian chromosomes and 3 homozygotes by ExAC (http://gnomad.broadinstitute.org/). Of note, other variants of unknown significance in the same gene were identified in 2 homozygous individuals (PMID: 10824074). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for Parkinson disease.
Invitae RCV000514167 SCV002460618 benign not provided 2023-12-29 criteria provided, single submitter clinical testing

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