ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.358G>A (p.Glu120Lys)

gnomAD frequency: 0.00002  dbSNP: rs772112038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343139 SCV001537103 uncertain significance Brugada syndrome 5 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 120 of the SCN1B protein (p.Glu120Lys). This variant is present in population databases (rs772112038, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039629). 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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