ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.522C>A (p.Leu174=)

dbSNP: rs35478147
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001447440 SCV001650505 likely benign Brugada syndrome 5 2022-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341387 SCV002640642 uncertain significance Cardiovascular phenotype 2022-10-05 criteria provided, single submitter clinical testing The c.522C>A variant (also known as p.L174L), located in coding exon 4 of the SCN1B gene, results from a C to A substitution at nucleotide position 522. This nucleotide substitution does not change the leucine at codon 174. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. According to data from gnomAD, the frequency for this variant is above the maximum credible frequency for a cardiac disease-causing variant and an autosomal dominant epilepsy disease-causing variant in this gene based on internally established thresholds (Karczewski et al. Nature. 2020 May;581(7809):434-443; Whiffin et al. Genet Med. 2017 10;19:1151-1158). Based on the supporting evidence, this variant is unlikely to be causative of SCN1B-related arrhythmia or autosomal dominant SCN1B-related epilepsy; however, its contribution to the development of autosomal recessive SCN1B-related developmental and epileptic encephalopathy is uncertain.
Clinical Genetics, Academic Medical Center RCV001700209 SCV001918065 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700209 SCV001929390 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000529608 SCV001953436 likely benign not provided no assertion criteria provided clinical testing

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