ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+114C>G

gnomAD frequency: 0.00012  dbSNP: rs1159393836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372365 SCV001569009 uncertain significance Brugada syndrome 5 2024-03-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 188 of the SCN1B protein (p.Pro188Ala). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 1062629). 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.
CeGaT Center for Human Genetics Tuebingen RCV002292633 SCV002585734 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing SCN1B: BP4

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