ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1625G>A (p.Arg542His)

gnomAD frequency: 0.00001  dbSNP: rs571637787
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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 RCV001228665 SCV001401077 uncertain significance Brugada syndrome 4 2023-05-22 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 not expected to disrupt CACNB2 protein function. ClinVar contains an entry for this variant (Variation ID: 955943). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs571637787, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 488 of the CACNB2 protein (p.Arg488His).
Ambry Genetics RCV002393563 SCV002698781 uncertain significance Cardiovascular phenotype 2022-05-02 criteria provided, single submitter clinical testing The p.R488H variant (also known as c.1463G>A), located in coding exon 13 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1463. The arginine at codon 488 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003222265 SCV003916590 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing

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