ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.*13G>A

dbSNP: rs1555721564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523129 SCV000621654 uncertain significance not specified 2017-10-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN1B gene. The c.*13 G>A variant in the 3' untranslated region of SCN1B has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. No data are available from control populations to assess the frequency of this variant (Lek et al., 2016). This substitution occurs at a position that is conserved in mammals. However, several in-silico splice prediction models predict that c.*13 G>A does not alter splicing. Additionally, regulatory variants have not been reported in the SCN1B gene in association with SCN1B-related disorders (Stenson et al., 2014). In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Baylor Genetics RCV001329521 SCV001520979 uncertain significance Developmental and epileptic encephalopathy, 52 2019-03-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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