ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.254G>A (p.Arg85His) (rs16969925)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763041 SCV000893520 pathogenic Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Epileptic encephalopathy, early infantile, 52 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000485749 SCV000568234 pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing The R85H variant in the SCN1B gene has been reported previously in multiple affected individuals from large family with genetic (generalized) epilepsy with febrile seizures plus (GEFS+) (Scheffer et al., 2007). It was also identified in an individual with atrial fibrillation who had no neurological phenotype (Watanabe et al., 2009). Functional studies demonstrated that the R85H variant results in a loss-of-function of the resultant channel protein (Xu et al., 2007; Watanabe et al., 2009). Additionally, a different missense variant at the same position (R85C) has been reported in a family with GEFS+ (Scheffer et al., 2007). The R85H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R85H variant is a conservative amino acid substitution which occurs at a position that is conserved in mammals. Therefore, the presence of R85H is consistent with a diagnosis of a SCN1B-related disorder in this individual.
OMIM RCV000054537 SCV000083015 pathogenic Atrial fibrillation, familial, 13 2009-06-01 no assertion criteria provided literature only

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