Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV001449819 | SCV001653120 | uncertain significance | not specified | 2020-06-04 | criteria provided, single submitter | clinical testing | The p.Arg762His variant in ADGRV1 has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.001% (4/280388) of the total chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2. |
| Labcorp Genetics |
RCV001865917 | SCV002128066 | likely benign | not provided | 2023-09-24 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002488257 | SCV002778299 | uncertain significance | Usher syndrome type 2C; Febrile seizures, familial, 4 | 2021-07-20 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001449819 | SCV003923224 | uncertain significance | not specified | 2024-10-23 | criteria provided, single submitter | clinical testing | Variant summary: ADGRV1 c.2285G>A (p.Arg762His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 248998 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2285G>A has been reported in the literature in an individual affected with Retinitis Pigmentosa (Ge_2015). This report does not provide unequivocal conclusions about association of the variant with Usher Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26667666). ClinVar contains an entry for this variant (Variation ID: 1120124). Based on the evidence outlined above, the variant was classified as uncertain significance. |