Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001869188 | SCV002269310 | likely pathogenic | not provided | 2021-01-06 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). This gene is also known as GPR98 in the literature. ClinVar contains an entry for this variant (Variation ID: 635993). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 20 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, 26667666, 30029497). |
Department of Clinical Genetics, |
RCV000787529 | SCV000926497 | likely pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |