ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1519G>A (p.Glu507Lys)

gnomAD frequency: 0.00001  dbSNP: rs1882436936
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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 RCV001988486 SCV002274530 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-05-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This sequence change replaces glutamic acid with lysine at codon 507 of the RPGRIP1 protein (p.Glu507Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.

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