ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter)

dbSNP: rs368781265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389834 SCV001591342 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-03-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 981640). 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 create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with inherited retinal disease (PMID: 20079931, 29178642). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln483*) 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).
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261179 SCV001438578 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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