ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4709del (p.Gly1570fs)

dbSNP: rs2129317773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001526737 SCV001737161 likely pathogenic Retinitis pigmentosa 1 2021-05-25 criteria provided, single submitter clinical testing
Invitae RCV001882567 SCV002145972 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 1172726). This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1570Glufs*10) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 587 amino acid(s) of the RP1 protein.

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