ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp)

gnomAD frequency: 0.00014  dbSNP: rs201770811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059497 SCV001224121 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 745 of the CNGB3 protein (p.Glu745Asp). This variant is present in population databases (rs201770811, gnomAD 0.01%). 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: 854439). 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.
Ambry Genetics RCV003346291 SCV004068474 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.2235G>C (p.E745D) alteration is located in exon 18 (coding exon 18) of the CNGB3 gene. This alteration results from a G to C substitution at nucleotide position 2235, causing the glutamic acid (E) at amino acid position 745 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276123 SCV001461974 uncertain significance Achromatopsia 2020-04-14 no assertion criteria provided clinical testing

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