Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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]. |