Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV000013926 | SCV001573278 | likely pathogenic | Retinitis pigmentosa 4 | 2021-04-08 | criteria provided, single submitter | research | The RHO c.792_794del variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PS3, PM4. Based on this evidence we have classified this variant as Likely Pathogenic. |
Invitae | RCV001386999 | SCV001587467 | pathogenic | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects RHO function (PMID: 30977563). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 13051). This variant has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 8088850). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.792_794del, results in the deletion of 1 amino acid(s) of the RHO protein (p.Cys264del), but otherwise preserves the integrity of the reading frame. |
OMIM | RCV000013926 | SCV000034173 | pathogenic | Retinitis pigmentosa 4 | 1994-05-15 | no assertion criteria provided | literature only |