ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser)

gnomAD frequency: 0.00004  dbSNP: rs730880059
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170873 SCV000223428 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000810801 SCV000951035 uncertain significance Brugada syndrome 4 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 494 of the CACNB2 protein (p.Gly494Ser). This variant is present in population databases (rs730880059, gnomAD 0.006%). 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: 180290). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV002390371 SCV002702541 uncertain significance Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing The p.G494S variant (also known as c.1480G>A), located in coding exon 13 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1480. The glycine at codon 494 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000810801 SCV002817007 uncertain significance Brugada syndrome 4 2022-02-09 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157131 SCV000206854 uncertain significance Cardiac arrest 2014-09-18 no assertion criteria provided clinical testing

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