ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.5A>G (p.His2Arg)

gnomAD frequency: 0.00006  dbSNP: rs765743471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303174 SCV001492413 uncertain significance Atrial fibrillation, familial, 14 2022-01-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN2B-related conditions. 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1006173). This variant is present in population databases (rs765743471, gnomAD 0.009%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 2 of the SCN2B protein (p.His2Arg).
Fulgent Genetics, Fulgent Genetics RCV001303174 SCV002792957 uncertain significance Atrial fibrillation, familial, 14 2021-08-11 criteria provided, single submitter clinical testing

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