ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)

gnomAD frequency: 0.00002  dbSNP: rs535922252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034879 SCV001198179 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 631 of the RPGRIP1 protein (p.His631Arg). This variant is present in population databases (rs535922252, gnomAD 0.02%). This missense change has been observed in individuals with RPGRIP1-related retinal dystrophy (PMID: 28559085; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 834237). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.His631 amino acid residue in RPGRIP1. Other variant(s) that disrupt this residue have been observed in individuals with RPGRIP1-related conditions (PMID: 25445212), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074229 SCV001239802 pathogenic Retinal dystrophy 2019-04-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800938 SCV002044770 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800939 SCV002044781 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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