ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)

dbSNP: rs755545288
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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 RCV001346164 SCV001540340 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 20 of the RPE65 protein (p.Glu20Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs755545288, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. 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. 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.
Natera, Inc. RCV001825925 SCV002092784 uncertain significance Leber congenital amaurosis 2020-12-14 no assertion criteria provided clinical testing

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