ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.800A>G (p.Lys267Arg)

gnomAD frequency: 0.00003  dbSNP: rs771875189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037410 SCV001200821 uncertain significance Brugada syndrome 4 2021-10-23 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 213 of the CACNB2 protein (p.Lys213Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs771875189, ExAC 0.007%). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 29016939). This variant is also known as c.800A>G (p.K267R). 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507778 SCV001713539 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing

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