ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+103C>T

gnomAD frequency: 0.00001  dbSNP: rs372041274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521306 SCV000619569 uncertain significance not provided 2023-07-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Located in an alternate transcript of the gene
Invitae RCV001346848 SCV001541083 uncertain significance Brugada syndrome 5 2022-11-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 184 of the SCN1B protein (p.Pro184Leu). This variant is present in population databases (rs372041274, gnomAD 0.04%). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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: 450936). This missense change has been observed in individual(s) with clinical features of SCN1B-related conditions (Invitae).
Fulgent Genetics, Fulgent Genetics RCV002481715 SCV002777515 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2021-09-13 criteria provided, single submitter clinical testing

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