ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003781400 SCV004573390 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-07-19 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of RPGRIP1-related conditions (PMID: 29343940, 30072743). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as c.1084_1087del, p.E362NAfs*12. This variant is present in population databases (rs768719934, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg363Leufs*11) 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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