ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)

gnomAD frequency: 0.00001  dbSNP: rs1336353571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000498925 SCV000579575 uncertain significance Primary dilated cardiomyopathy 2017-04-30 criteria provided, single submitter clinical testing
Invitae RCV001322930 SCV001513825 uncertain significance Brugada syndrome 4 2021-02-23 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 427977). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 372 of the CACNB2 protein (p.Ala372Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
Ambry Genetics RCV002438200 SCV002746348 uncertain significance Cardiovascular phenotype 2019-10-04 criteria provided, single submitter clinical testing The p.A372T variant (also known as c.1114G>A), located in coding exon 11 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1114. The alanine at codon 372 is replaced by threonine, an amino acid with 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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