ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.544A>G (p.Met182Val)

gnomAD frequency: 0.00003  dbSNP: rs775466397
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471885 SCV000552983 uncertain significance Brugada syndrome 4 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 128 of the CACNB2 protein (p.Met128Val). This variant is present in population databases (rs775466397, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 411702). 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 with a negative predictive value of 80%. 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.
CSER _CC_NCGL, University of Washington RCV000590945 SCV000700139 uncertain significance Brugada syndrome 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of Brugada syndrome. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Ambry Genetics RCV000619640 SCV000737937 uncertain significance Cardiovascular phenotype 2017-03-14 criteria provided, single submitter clinical testing The p.M128V variant (also known as c.382A>G), located in coding exon 4 of the CACNB2 gene, results from an A to G substitution at nucleotide position 382. The methionine at codon 128 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV000471885 SCV002793283 uncertain significance Brugada syndrome 4 2021-11-09 criteria provided, single submitter clinical testing

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