Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825858 | SCV000967342 | uncertain significance | not specified | 2018-02-14 | criteria provided, single submitter | clinical testing | The p.Pro1702Ser variant in ADGRV1 has been reported in 1 individual with Usher syndrome without a second variant in ADGRV1 identified (Le Quesne Stabej 2012), but was also identified in 0.1% (33/27756) of South Asian chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs5350 38304). Although this variant has been seen in the general population, its frequ ency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro1702Ser variant is uncertain. ACMG/AMP Criteria applied: None. |
Invitae | RCV001063746 | SCV001228606 | likely benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing |