ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.383C>T (p.Ala128Val)

dbSNP: rs376636577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001880913 SCV002144624 uncertain significance Brugada syndrome 4 2023-09-05 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: 1377949). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 74 of the CACNB2 protein (p.Ala74Val).
Ambry Genetics RCV002425164 SCV002729671 uncertain significance Cardiovascular phenotype 2022-06-14 criteria provided, single submitter clinical testing The p.A74V variant (also known as c.221C>T), located in coding exon 3 of the CACNB2 gene, results from a C to T substitution at nucleotide position 221. The alanine at codon 74 is replaced by valine, an amino acid with 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. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV001880913 SCV002792662 uncertain significance Brugada syndrome 4 2021-10-12 criteria provided, single submitter clinical testing

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