Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000032512 | SCV002806219 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000032512 | SCV004649430 | uncertain significance | Autosomal dominant Parkinson disease 8 | 2023-07-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met2397*) in the LRRK2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LRRK2 cause disease. 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. ClinVar contains an entry for this variant (Variation ID: 39237). This variant has not been reported in the literature in individuals affected with LRRK2-related conditions. This variant is present in population databases (rs755072260, gnomAD 0.005%). |
Gene |
RCV000032512 | SCV000056175 | not provided | Autosomal dominant Parkinson disease 8 | no assertion provided | literature only |