ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg)

gnomAD frequency: 0.00004  dbSNP: rs753083465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670701 SCV000795591 uncertain significance Achromatopsia 3 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001245682 SCV001418985 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 795 of the CNGB3 protein (p.Gly795Arg). This variant is present in population databases (rs753083465, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CNGB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 554970). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CNGB3 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. RCV001830448 SCV002075546 uncertain significance Achromatopsia 2020-07-16 no assertion criteria provided clinical testing

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