ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+321G>A

gnomAD frequency: 0.00173  dbSNP: rs72558028
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171029 SCV000223593 benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000990193 SCV000291893 likely benign Brugada syndrome 5 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313016 SCV000847791 likely benign Cardiovascular phenotype 2018-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000171029 SCV000864302 likely benign not specified 2017-11-06 criteria provided, single submitter clinical testing BP4, BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Mendelics RCV000990193 SCV001141046 benign Brugada syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000226408 SCV001151769 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SCN1B: BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171029 SCV002104128 benign not specified 2022-02-21 criteria provided, single submitter clinical testing Variant summary: SCN1B c.769G>A (p.Gly257Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 154932 control chromosomes. The observed variant frequency is approximately 143 fold of the estimated maximal expected allele frequency for a pathogenic variant in SCN1B causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. c.769G>A has been reported in the literature in individuals affected with Arrhythmia. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Fulgent Genetics, Fulgent Genetics RCV002498856 SCV002804894 likely benign Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2022-05-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000226408 SCV001925141 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000226408 SCV001928018 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000226408 SCV001952118 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000226408 SCV001974244 likely benign not provided no assertion criteria provided clinical testing

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