ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.266G>A (p.Arg89His)

gnomAD frequency: 0.00001  dbSNP: rs138381632
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171039 SCV000223603 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing Observed as heterozygous variant in patient with primary electrical disease (Proost et al., 2017) and epilepsy (Dang et al., 2020); however, no further clinical information was provided; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28341588, 36291443, 32303391)
Invitae RCV000466397 SCV000545177 uncertain significance Brugada syndrome 5 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 89 of the SCN1B protein (p.Arg89His). This variant is present in population databases (rs138381632, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of autosomal dominant SCN1B-related conditions (PMID: 28341588; Invitae). ClinVar contains an entry for this variant (Variation ID: 190860). 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 disruptive. 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.
AiLife Diagnostics, AiLife Diagnostics RCV000171039 SCV002501383 uncertain significance not provided 2021-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433738 SCV002744920 likely benign Cardiovascular phenotype 2020-06-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002485075 SCV002786283 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2021-11-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000171039 SCV004237152 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000171039 SCV001921737 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000171039 SCV001954597 uncertain significance not provided no assertion criteria provided clinical testing

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