ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.803T>C (p.Met268Thr)

dbSNP: rs1440942177
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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 RCV001343314 SCV001537284 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 268 of the CNGB3 protein (p.Met268Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001831094 SCV002076093 uncertain significance Achromatopsia 2020-09-01 no assertion criteria provided clinical testing

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