ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3037G>A (p.Val1013Ile)

gnomAD frequency: 0.00004  dbSNP: rs1289388105
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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 RCV001935425 SCV002180988 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1013 of the RPGRIP1 protein (p.Val1013Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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