ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2479C>T (p.Arg827Cys)

gnomAD frequency: 0.00002  dbSNP: rs985883884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245479 SCV001418770 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 827 of the RPGRIP1 protein (p.Arg827Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Arg827 amino acid residue in RPGRIP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12920076). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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