ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+123C>T

gnomAD frequency: 0.00001  dbSNP: rs771174760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471594 SCV000545175 uncertain significance Brugada syndrome 5 2022-03-13 criteria provided, single submitter clinical testing 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 tryptophan 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: 406503). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (rs771174760, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 191 of the SCN1B protein (p.Arg191Trp). 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 RCV001726176 SCV001961798 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489023 SCV002783918 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2021-08-02 criteria provided, single submitter clinical testing

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