ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)

gnomAD frequency: 0.00006  dbSNP: rs149793143
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454635 SCV000538568 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband; ClinVar: 1 VUS
Invitae RCV001247977 SCV001421434 uncertain significance Brugada syndrome 4 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 340 of the CACNB2 protein (p.Val340Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs149793143, ExAC 0.003%). This missense change has been observed in individual(s) with Brugada syndrome (PMID: 22840528). ClinVar contains an entry for this variant (Variation ID: 161214). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002354336 SCV002655317 uncertain significance Cardiovascular phenotype 2022-09-12 criteria provided, single submitter clinical testing The p.V340I variant (also known as c.1018G>A), located in coding exon 10 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1018. The valine at codon 340 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
CSER _CC_NCGL, University of Washington RCV000148452 SCV000190151 uncertain significance Brugada syndrome 2014-06-01 no assertion criteria provided research

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