ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.433G>C (p.Val145Leu)

dbSNP: rs1881012139
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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 RCV001926842 SCV002198819 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-07-03 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 not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 145 of the RPGRIP1 protein (p.Val145Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.

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