Submissions for variant NM_006269.2(RP1):c.2613dup (p.Arg872fs)

dbSNP: rs1449723475

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV000504747	SCV001162636	pathogenic	Retinitis pigmentosa	2020-01-09	criteria provided, single submitter	research
Blueprint Genetics	RCV001073948	SCV001239513	likely pathogenic	Retinal dystrophy	2018-07-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092033	SCV001248372	pathogenic	not provided	2017-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV001092033	SCV001378919	pathogenic	not provided	2023-10-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg872Thrfs*2) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1285 amino acid(s) of the RP1 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individuals with autosomal dominant retinitis pigmentosa (RP) (PMID: 11095597, 27391102, 28041643). It has also been observed to segregate with disease in related individuals. This variant is also known as c.2608-2609insA. ClinVar contains an entry for this variant (Variation ID: 437955). 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 Medical Molecular Genetics, University of Zurich	RCV001353032	SCV001548146	likely pathogenic	Retinitis pigmentosa 1	2021-01-30	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV001073948	SCV004706712	likely pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504747	SCV000598689	pathogenic	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research