Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605661 | SCV000713835 | uncertain significance | not specified | 2018-01-09 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Asp4832Glu va riant in ADGRV1 has not been previously reported in individuals with Usher syndr ome, but has been identified in 4/24110 of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7538036 15). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analyses suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Asp4832Glu variant is uncert ain, the variant is more likely to be benign. ACMG/AMP Criteria applied: BP4 |
Invitae | RCV003767461 | SCV004661770 | likely benign | not provided | 2023-03-08 | criteria provided, single submitter | clinical testing |