Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255292 | SCV000322616 | pathogenic | not provided | 2016-06-16 | criteria provided, single submitter | clinical testing | The R3405X pathogenic variant in the ADGRV1 gene has been reported previously in an individual with nonsyndromic hearing loss who also harbored a missense ADGRV1 variant, although the phase of these two variants was not determined as parental studies were not performed (Gu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R3405X variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R3405X as a pathogenic variant. |
Invitae | RCV000255292 | SCV004293582 | pathogenic | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3405*) 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 (rs763670293, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with deafness (PMID: 24853665). ClinVar contains an entry for this variant (Variation ID: 265623). For these reasons, this variant has been classified as Pathogenic. |