ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.267C>T (p.Arg89=)

gnomAD frequency: 0.00232  dbSNP: rs140949982
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127899 SCV000171485 benign not specified 2012-12-31 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.
Eurofins Ntd Llc (ga) RCV000127899 SCV000228930 benign not specified 2014-09-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000127899 SCV000615048 benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV001082771 SCV000647854 benign Brugada syndrome 5 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586689 SCV000700046 benign not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The SCN1B c.267C>T (p.Arg89=) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. This variant was found in 85/121400 control chromosomes at a frequency of 0.0007002, which is approximately 70 times of the estimated maximal allele frequency of a pathogenic SCN1B variant (0.00001), suggesting this variant is a benign polymorphism. The variant was found to co-occure with a pathogenic variant, c.573_577delGCGCT in KCNH2, further suggesting non-pathogenic nature of the variant of interest. In addition, several clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as Benign.
Ambry Genetics RCV000620631 SCV000737594 likely benign Cardiovascular phenotype 2016-06-14 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.
CeGaT Center for Human Genetics Tuebingen RCV000586689 SCV002498456 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002483257 SCV002802748 likely benign Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2022-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586689 SCV003800004 likely benign not provided 2022-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544288 SCV004772802 benign SCN1B-related disorder 2019-07-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000127899 SCV001921576 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000586689 SCV001928504 likely benign not provided no assertion criteria provided clinical testing

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