Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001154701 | SCV001316081 | uncertain significance | Usher syndrome type 2C | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Invitae | RCV001231714 | SCV001404245 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002480558 | SCV002786662 | uncertain significance | Usher syndrome type 2C; Febrile seizures, familial, 4 | 2022-03-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003259126 | SCV003947382 | likely benign | Inborn genetic diseases | 2023-05-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001154701 | SCV004048266 | uncertain significance | Usher syndrome type 2C | criteria provided, single submitter | clinical testing | The missense variant c.8488C>G(p.Leu2830Val) in ADGRV1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.02% in the gnomad and 0.04% in the 1000 genome database. The amino acid Leucine at position 2830 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance. |