ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2449G>A (p.Gly817Arg)

gnomAD frequency: 0.00008  dbSNP: rs764884763
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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 RCV001338666 SCV001532352 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 817 of the RPGRIP1 protein (p.Gly817Arg). This variant is present in population databases (rs764884763, gnomAD 0.02%). 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: 1035755). 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. 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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