ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys)

gnomAD frequency: 0.00002  dbSNP: rs777404947
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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 RCV001239685 SCV001412577 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 159 of the CNGB3 protein (p.Glu159Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs777404947, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CNGB3-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 disruptive. 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. RCV001834100 SCV002076105 uncertain significance Achromatopsia 2021-10-04 no assertion criteria provided clinical testing

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