Submissions for variant NM_006269.2(RP1):c.3843del (p.Pro1282fs)

dbSNP: rs769601671

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001857202	SCV002243816	pathogenic	not provided	2024-10-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro1282Leufs*12) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 875 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 recessive retinitis pigmentosa (PMID: 24265693). ClinVar contains an entry for this variant (Variation ID: 437957). 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	RCV004817724	SCV005069262	pathogenic	Retinal dystrophy	2014-01-01	criteria provided, single submitter	clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505130	SCV000598691	pathogenic	Retinitis pigmentosa	2015-01-01	no assertion criteria provided	research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000678612	SCV000804698	pathogenic	Retinitis pigmentosa 1	2016-09-01	no assertion criteria provided	clinical testing