ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1911G>C (p.Lys637Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004994909 SCV005548199 uncertain significance Cardiovascular phenotype 2024-10-20 criteria provided, single submitter clinical testing The p.K583N variant (also known as c.1749G>C), located in coding exon 13 of the CACNB2 gene, results from a G to C substitution at nucleotide position 1749. The lysine at codon 583 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110079 SCV005847306 uncertain significance Brugada syndrome 4 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 583 of the CACNB2 protein (p.Lys583Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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