ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2388A>T (p.Glu796Asp)

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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 RCV002995856 SCV003297217 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-02-18 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 (rs764645510, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 796 of the RPGRIP1 protein (p.Glu796Asp).

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