Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001310513 | SCV001500346 | likely pathogenic | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001310513 | SCV003525925 | pathogenic | not provided | 2021-12-21 | 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: 1012516). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 22147658). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser3646Metfs*27) 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, 26667666, 30029497, 32467589). |