ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu)

dbSNP: rs748785588
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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 RCV001043004 SCV001206714 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 703 of the CNGB3 protein (p.Lys703Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs748785588, ExAC 0.01%). 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 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. RCV001827259 SCV002075556 uncertain significance Achromatopsia 2021-09-22 no assertion criteria provided clinical testing

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