Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594440 | SCV000708101 | pathogenic | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000594440 | SCV002946662 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 501650). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This variant is present in population databases (rs768589991, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln4275*) 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). |