ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer)

dbSNP: rs2139168888
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007259 SCV002232267 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile270*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).

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