Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001873207 | SCV002145076 | uncertain significance | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 3576 of the ADGRV1 protein (p.Tyr3576Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs778286042, ExAC 0.002%). 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: 635472). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000786932 | SCV000925835 | uncertain significance | Usher syndrome type 2C | 2019-01-17 | no assertion criteria provided | clinical testing |