ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+337G>A (rs369032304)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598995 SCV000710025 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing The C262Y variant of uncertain significance in the SCN1B gene has not been published as pathogenic or been reported as benign to our knowledge. This variant was identified in conjunction with multiple other cardiogenetic variants in an unrelated individual referred for testing at GeneDx. C262Y was observed in 28/11,868 (0.24%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). The C262Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Finally, the C262Y variant occurs in an alternate transcript where no pathogenic variants in nearby residues have been reported in the Human Gene Mutation Database in association with inherited arrhythmias (Stenson et al., 2014).
Invitae RCV001085242 SCV000768529 likely benign Brugada syndrome 5 2019-12-31 criteria provided, single submitter clinical testing

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