ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs)

dbSNP: rs1554519422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Australian Inherited Retinal Disease Registry & DNA Bank, Sir Charles Gairdner Hospital RCV000659269 SCV000778532 uncertain significance Leber congenital amaurosis 1 2017-11-30 criteria provided, single submitter research Detected in an unaffected mother, and in an affected individual with another genetic cause for disease; not considered primary cause of disease
Invitae RCV003679012 SCV004410087 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 547180). This variant has not been reported in the literature in individuals affected with RP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala423Asnfs*11) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1734 amino acid(s) of the RP1 protein.

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