ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2585C>G (p.Ser862Ter)

dbSNP: rs1585563965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002535754 SCV003440853 pathogenic not provided 2024-03-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser862*) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1295 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 individual(s) with retinitis pigmentosa (PMID: 23950152, 30718709). ClinVar contains an entry for this variant (Variation ID: 636091). 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.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787692 SCV000926684 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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