Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000156708 | SCV000206429 | uncertain significance | not specified | 2014-07-22 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The 17856+4G>A vari ant in GPR98 has not been reported in individuals with hearing loss and was abse nt from large population studies. This variant is located in the 5' splice regio n. Computational tools do not suggest an impact to splicing. However, this infor mation is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the 17856+4G>A variant is uncertain, these data sugges t that is more likely to be benign. |
| Invitae | RCV002516346 | SCV003506732 | uncertain significance | not provided | 2022-09-10 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 83 of the ADGRV1 gene. It does not directly change the encoded amino acid sequence of the ADGRV1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 179907). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |