Submissions for variant NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)

dbSNP: rs869320726

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001073327	SCV001238866	pathogenic	Retinal dystrophy	2018-11-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001212087	SCV001383661	pathogenic	not provided	2025-01-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu762Tyrfs*17) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1395 amino acid(s) of the RP1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 10391211, 29843741). It has also been observed to segregate with disease in related individuals. This variant is also known as Leu762(5-bp del). ClinVar contains an entry for this variant (Variation ID: 5966). This variant disrupts the C-terminus of the RP1 protein. Many variants that disrupt this region have been reported in individuals with either autosomal dominant or autosomal recessive retinitis pigmentosa (PMID: 11527933, 19933189, 29425069, 30027431, 33681214). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001073327	SCV005072445	pathogenic	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing
OMIM	RCV000006330	SCV000026512	pathogenic	Retinitis pigmentosa 1	1999-07-01	no assertion criteria provided	literature only
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504689	SCV000598686	pathogenic	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research
Clinical Genetics, Academic Medical Center	RCV001212087	SCV001922014	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001212087	SCV001964611	pathogenic	not provided		no assertion criteria provided	clinical testing