Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000155930 | SCV000205642 | uncertain significance | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | The Asn142Ser variant in GPR98 has not been reported in individuals with hearing loss and was found to be absent from large population studies. Computational an alyses biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, an d SIFT) do not provide strong support for or against an impact to the protein. I n summary, additional information is needed to fully assess the clinical signifi cance of the Asn142Ser variant. |
| Invitae | RCV001850142 | SCV002125644 | uncertain significance | not provided | 2022-03-10 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 142 of the ADGRV1 protein (p.Asn142Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ADGRV1-related conditions (PMID: 29048421). ClinVar contains an entry for this variant (Variation ID: 179145). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |