ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly)

dbSNP: rs1315126444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366428 SCV001562729 uncertain significance not provided 2020-02-11 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RP1-related conditions. This sequence change replaces glutamic acid with glycine at codon 1459 of the RP1 protein (p.Glu1459Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001290414 SCV001478372 uncertain significance Leber optic atrophy 2021-01-20 no assertion criteria provided clinical testing

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