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
Labcorp Genetics (formerly Invitae), Labcorp 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 absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 4e-06 in 249180 control chromosomes (gnomAD). c.2465_2468dupCATA has been reported in the literature in individuals affected with Leber Congenital Amaurosis (Skorczyk-Werner_2020, 2023). The following publications have been ascertained in the context of this evaluation (PMID: 33308271, 36369640). 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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