Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268696 | SCV001447823 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001542552 | SCV001652803 | likely pathogenic | Autosomal recessive early-onset Parkinson disease 7 | 2021-11-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001268696 | SCV002585019 | likely pathogenic | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PARK7: PM2, PS3:Moderate, PM3:Supporting, PM4:Supporting |
Invitae | RCV001542552 | SCV002945415 | uncertain significance | Autosomal recessive early-onset Parkinson disease 7 | 2021-12-27 | criteria provided, single submitter | clinical testing | This variant, c.471_473del, results in the deletion of 1 amino acid(s) of the PARK7 protein (p.Pro158del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764877312, gnomAD 0.01%). This variant has been observed in individual(s) with Parkinson disease (PMID: 18973254). ClinVar contains an entry for this variant (Variation ID: 987356). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects PARK7 function (PMID: 20806408, 23183826, 23241025). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genomics England Pilot Project, |
RCV001542552 | SCV001760039 | likely pathogenic | Autosomal recessive early-onset Parkinson disease 7 | no assertion criteria provided | clinical testing |