Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156485 | SCV000206204 | uncertain significance | not specified | 2018-01-09 | criteria provided, single submitter | clinical testing | The p.Val263Met variant in ADGRV1 has been previously reported by our laboratory in the heterozygous state in 1 individual with hearing loss; a variant affectin g the other copy of the gene was not identified. The Val263Met variant has also been identified in 7/34408 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs727505056). Although this va riant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation a nalyses do not provide strong support for or against an impact to the protein. I n summary, the clinical significance of the p.Val263Met variant is uncertain. A CMG/AMP Criteria applied: none. |
Invitae | RCV002515022 | SCV002944418 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002515022 | SCV004023646 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |