ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.26G>A (p.Arg9His)

gnomAD frequency: 0.00001  dbSNP: rs1346537909
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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 RCV004519056 SCV005022662 uncertain significance Cardiovascular phenotype 2023-11-09 criteria provided, single submitter clinical testing The p.R9H variant (also known as c.26G>A), located in coding exon 1 of the SCN2B gene, results from a G to A substitution at nucleotide position 26. The arginine at codon 9 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005100491 SCV005764451 uncertain significance Atrial fibrillation, familial, 14 2024-09-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 9 of the SCN2B protein (p.Arg9His). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SCN2B-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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