ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile)

gnomAD frequency: 0.00002  dbSNP: rs1027900338
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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 RCV001365425 SCV001561697 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 332 of the CNGB3 protein (p.Thr332Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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. 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 not 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. RCV001831259 SCV002076086 uncertain significance Achromatopsia 2021-07-26 no assertion criteria provided clinical testing

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