ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.789CTG[1] (p.Cys264del)

dbSNP: rs121918590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear 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

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