ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3779T>A (p.Ile1260Lys)

dbSNP: rs752222755
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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 RCV001207245 SCV001378589 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with lysine at codon 1260 of the RPGRIP1 protein (p.Ile1260Lys). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and lysine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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