ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+226G>A

gnomAD frequency: 0.00001  dbSNP: rs757396314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646747 SCV000768532 uncertain significance Brugada syndrome 5 2023-05-29 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine 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: 537732). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (rs757396314, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 225 of the SCN1B protein (p.Arg225His).

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