ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.118G>A (p.Val40Ile) (rs200761835)

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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 RCV000171691 SCV000050712 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001220499 SCV001392493 uncertain significance Atrial fibrillation, familial, 14 2020-09-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 40 of the SCN2B protein (p.Val40Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs200761835, ExAC 0.01%). This variant has not been reported in the literature in individuals with SCN2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 191494). 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 isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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