ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)

dbSNP: rs745741473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062863 SCV001227686 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala824Ilefs*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). This variant is present in population databases (rs745741473, gnomAD 0.01%). 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: 857229). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075703 SCV001241331 likely pathogenic Retinal dystrophy 2019-04-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800948 SCV002045164 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800949 SCV002045175 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526076 SCV005039523 pathogenic Leber congenital amaurosis 2024-03-11 criteria provided, single submitter clinical testing Variant summary: RPGRIP1 c.2465_2468dupCATA (p.Ala824IlefsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 249180 control chromosomes. c.2465_2468dupCATA has been reported in the literature in individuals affected with Leber Congenital Amaurosis. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 857229). Based on the evidence outlined above, the variant was classified as pathogenic.

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