ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg)

gnomAD frequency: 0.00001  dbSNP: rs200260399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171629 SCV000050663 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV002515245 SCV002935320 uncertain significance Brugada syndrome 4 2022-09-14 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 191437). 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 lysine, which is basic and polar, with arginine, which is basic and polar, at codon 577 of the CACNB2 protein (p.Lys577Arg).

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