Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073997 | SCV001239563 | uncertain significance | Retinal dystrophy | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195220 | SCV001365527 | uncertain significance | not specified | 2019-05-21 | criteria provided, single submitter | clinical testing | The p.Thr4591Ile variant in ADGRV1 has not been previously reported in individuals with hearing loss but has been identified in 0.01% (13/128070) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Labcorp Genetics |
RCV001306737 | SCV001496118 | likely benign | not provided | 2024-11-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001306737 | SCV002571624 | uncertain significance | not provided | 2022-09-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001195220 | SCV005204325 | uncertain significance | not specified | 2024-06-13 | criteria provided, single submitter | clinical testing | Variant summary: ADGRV1 c.13772C>T (p.Thr4591Ile) results in a non-conservative amino acid change located in the Na-Ca exchanger/integrin-beta4 (IPR003644) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.8e-05 in 248824 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ADGRV1 causing ADGRV1-Related Disorders, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.13772C>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: 866190). Based on the evidence outlined above, the variant was classified as uncertain significance. |