Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599234 | SCV000709808 | pathogenic | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | Observed with a second ADGRV1 variant in a patient with retinal disease in published literature (Zampaglione E et al., 2020); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21569298, 31589614, 32037395) |
Mendelics | RCV000987544 | SCV001136860 | pathogenic | Usher syndrome type 2C | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000599234 | SCV001380629 | pathogenic | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met5890Valfs*10) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is present in population databases (rs757696771, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21569298). ClinVar contains an entry for this variant (Variation ID: 503620). For these reasons, this variant has been classified as Pathogenic. |
Ocular Genomics Institute, |
RCV000987544 | SCV001573666 | pathogenic | Usher syndrome type 2C | 2021-04-08 | criteria provided, single submitter | research | The GPR98 c.17668_17669del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic. |