ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr)

gnomAD frequency: 0.00002  dbSNP: rs758659088
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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 RCV001066997 SCV001232023 uncertain significance not provided 2021-09-07 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 756 of the CNGB3 protein (p.Cys756Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs758659088, ExAC 0.04%). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine 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. RCV001833650 SCV002075549 uncertain significance Achromatopsia 2021-07-12 no assertion criteria provided clinical testing

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