ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)

dbSNP: rs1594224781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385916 SCV001585934 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg992Glufs*9) 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 premature translational stop signal has been observed in individual(s) with RPGRIP1-related conditions (PMID: 34722527). ClinVar contains an entry for this variant (Variation ID: 812427). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003211 SCV001161289 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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