Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001376190 | SCV001573242 | likely pathogenic | Usher syndrome type 2C | 2021-04-08 | criteria provided, single submitter | research | The GPR98 c.14972+1G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
Invitae | RCV002550229 | SCV003299477 | likely pathogenic | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 73 of the ADGRV1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). This variant is present in population databases (rs780011571, gnomAD 0.002%). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1065641). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Gene |
RCV002550229 | SCV004022845 | likely pathogenic | not provided | 2023-07-25 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed with a pathogenic variant on the opposite allele (in trans) in a patient with bilateral sensorineural hearing loss referred for genetic testing at GeneDx; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31964843) |