ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.101A>G (p.Gln34Arg)

gnomAD frequency: 0.00303  dbSNP: rs148851677
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001507187 SCV000645378 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000537921 SCV001315878 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Institute Rare Disease Group, Broad Institute RCV000537921 SCV001435218 likely benign Autosomal recessive juvenile Parkinson disease 2 criteria provided, single submitter research The heterozygous p.Gln34Arg variant in PARK2 has been identified in at least 5 individuals with Parkinson disease (PMID: 16793319, 22766139), but also has been identified in >1% of South Asian chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Gln34Arg variant may not impact protein structure (PMID: 21348451). However, these types of assays may not accurately represent biological function. 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.
Athena Diagnostics Inc RCV001662570 SCV001879939 benign not specified 2020-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001507187 SCV004158600 benign not provided 2023-10-01 criteria provided, single submitter clinical testing PRKN: BS1, BS2

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