Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075072 | SCV001240683 | pathogenic | Retinal dystrophy | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862841 | SCV002244742 | pathogenic | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val3363Aspfs*11) 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 (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 19357117). This variant is also known as c.10085_10088delAAGT. ClinVar contains an entry for this variant (Variation ID: 866776). For these reasons, this variant has been classified as Pathogenic. |