ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)

dbSNP: rs554396590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002532181 SCV003442191 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560507). This premature translational stop signal has been observed in individual(s) with clinical features of RPGRIP1-related conditions (PMID: 21602930, 23776498). This variant is present in population databases (rs554396590, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg267*) 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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678628 SCV000804716 pathogenic Leber congenital amaurosis 6 2016-09-01 no assertion criteria provided clinical testing

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