ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala)

gnomAD frequency: 0.00006  dbSNP: rs151274272
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704593 SCV000565843 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Observed in 0.0035% (10/282616) alleles in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV001056751 SCV001221213 uncertain significance Brugada syndrome 4 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 516 of the CACNB2 protein (p.Pro516Ala). This variant is present in population databases (rs151274272, gnomAD 0.009%). 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: 418636). 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. 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001056751 SCV001366673 uncertain significance Brugada syndrome 4 2019-05-23 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Ambry Genetics RCV002402382 SCV002706294 uncertain significance Cardiovascular phenotype 2023-10-16 criteria provided, single submitter clinical testing The c.1546C>G (p.P516A) alteration is located in exon 13 (coding exon 13) of the CACNB2 gene. This alteration results from a C to G substitution at nucleotide position 1546, causing the proline (P) at amino acid position 516 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001056751 SCV002791855 uncertain significance Brugada syndrome 4 2021-09-09 criteria provided, single submitter clinical testing

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