ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu)

gnomAD frequency: 0.00001  dbSNP: rs747258045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490023 SCV000577847 likely pathogenic not provided 2015-04-03 criteria provided, single submitter clinical testing The S813L variant in the CNGB1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The S813L variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S813L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts that this variant is probably damaging to the protein structure/function. The S813L variant is a strong candidate for a disease-causing variant; however, the possibility that it may be a rare benign variant cannot be excluded.
Invitae RCV000490023 SCV001506099 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing 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. 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 CNGB1 protein function. ClinVar contains an entry for this variant (Variation ID: 427204). This variant has not been reported in the literature in individuals affected with CNGB1-related conditions. This variant is present in population databases (rs747258045, gnomAD 0.05%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 813 of the CNGB1 protein (p.Ser813Leu).

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