Submissions for variant NM_006269.2(RP1):c.1498_1499del (p.Met500fs)

gnomAD frequency: 0.00002  dbSNP: rs765129639

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376315	SCV001573417	likely pathogenic	Retinitis pigmentosa 1	2021-04-08	criteria provided, single submitter	research	The RP1 c.1498_1499del 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	RCV003558418	SCV004294622	pathogenic	not provided	2023-07-16	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 437947). This premature translational stop signal has been observed in individual(s) with clinical features consistent with autosomal recessive retinal dystrophy (PMID: 28041643, 30027431, 32193659). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs765129639, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Met500Valfs*7) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1657 amino acid(s) of the RP1 protein.
Dept Of Ophthalmology, Nagoya University	RCV000504978	SCV004706073	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504978	SCV000598679	likely pathogenic	Retinal dystrophy	2015-01-01	no assertion criteria provided	research