ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln)

dbSNP: rs121434627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003332078 SCV004040268 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect, as variant may reduce sodium channel functional expression and lead to decrease in Nav1.5 current (Watanabe et al., 2008; Baroni et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18464934, 29758173, 28878239, 34034907, 22247482)
OMIM RCV000009837 SCV000030058 pathogenic Conduction system disorder 2008-06-01 no assertion criteria provided literature only

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