Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001157525 | SCV001319113 | uncertain significance | Usher syndrome type 2C | 2018-01-13 | 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. |
| Labcorp Genetics |
RCV001316471 | SCV001507095 | likely benign | not provided | 2024-09-10 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002483902 | SCV002790767 | uncertain significance | Usher syndrome type 2C; Febrile seizures, familial, 4 | 2022-01-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002557347 | SCV003732686 | uncertain significance | Inborn genetic diseases | 2022-06-09 | criteria provided, single submitter | clinical testing | The c.14320C>T (p.L4774F) alteration is located in exon 70 (coding exon 70) of the ADGRV1 gene. This alteration results from a C to T substitution at nucleotide position 14320, causing the leucine (L) at amino acid position 4774 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994221 | SCV004813291 | uncertain significance | not specified | 2024-02-08 | criteria provided, single submitter | clinical testing | Variant summary: ADGRV1 c.14320C>T (p.Leu4774Phe) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 248922 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.14320C>T in individuals affected with ADGRV1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 907577). Based on the evidence outlined above, the variant was classified as uncertain significance. |