Total submissions: 5
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, |
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, |
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 | |
Ce |
RCV001507187 | SCV004158600 | benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | PRKN: BS1, BS2 |