ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) (rs150721582)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171057 SCV000223621 likely benign not specified 2017-11-09 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.
Ambry Genetics RCV000254246 SCV000319080 likely benign Cardiovascular phenotype 2018-09-29 criteria provided, single submitter clinical testing Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713013 SCV000340803 uncertain significance not provided 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV001080509 SCV000647849 likely benign Brugada syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713013 SCV000843579 likely benign not provided 2017-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719381 SCV000850247 likely benign Seizures 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000713013 SCV000886077 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing The SCN1B c.632G>A; p.Cys211Tyr variant (rs150721582) has been reported in individuals diagnosed with Brugada syndrome, pediatric idiopathic epilepsy, and congenital atrioventricular block (Orrico 2009, Ricci 2014, Syam 2016), but was also detected in healthy control individuals (Orrico 2009). This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.04% (identified on 107 out of 277,166 chromosomes). The cysteine at position 211 is highly conserved, considering 12 species, and computational analyses of the effects of the p.Cys211Tyr variant on protein structure and function predict a deleterious effect (SIFT: damaging, PolyPhen-2: probably damaging). Based on the available information, the clinical significance of the p.Cys211Tyr variant cannot be determined with certainty.

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