ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2963A>G (p.His988Arg)

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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 RCV002937056 SCV003257959 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-10 criteria provided, single submitter clinical testing 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs201597595, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 988 of the RPGRIP1 protein (p.His988Arg).

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