ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3651T>G (p.Asp1217Glu)

gnomAD frequency: 0.00001  dbSNP: rs1316957086
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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 RCV001359870 SCV001555758 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-07-14 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1051786). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1217 of the RPGRIP1 protein (p.Asp1217Glu).

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