ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)

dbSNP: rs1739469293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073416 SCV001238957 likely pathogenic Retinal dystrophy 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862500 SCV002145320 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg814Hisfs*44) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 865870). For these reasons, this variant has been classified as Pathogenic.

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