ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.5564del (p.Lys1855fs)

dbSNP: rs2129318266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591845 SCV001815963 likely pathogenic Retinitis pigmentosa 1 2021-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866154 SCV002128159 pathogenic not provided 2024-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1855Argfs*42) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 302 amino acid(s) of the RP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1213903). 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.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001591845 SCV004023368 pathogenic Retinitis pigmentosa 1 no assertion criteria provided research

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