ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.511G>A (p.Gly171Arg)

gnomAD frequency: 0.00001  dbSNP: rs766267727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002036493 SCV002314394 uncertain significance Brugada syndrome 4 2022-02-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 117 of the CACNB2 protein (p.Gly117Arg). This variant is present in population databases (rs766267727, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
PreventionGenetics, part of Exact Sciences RCV003403662 SCV004105255 uncertain significance CACNB2-related disorder 2023-02-14 criteria provided, single submitter clinical testing The CACNB2 c.349G>A variant is predicted to result in the amino acid substitution p.Gly117Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-18789795-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004044796 SCV005032040 uncertain significance Cardiovascular phenotype 2024-03-11 criteria provided, single submitter clinical testing The p.G117R variant (also known as c.349G>A), located in coding exon 4 of the CACNB2 gene, results from a G to A substitution at nucleotide position 349. The glycine at codon 117 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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