Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480061 | SCV000573728 | uncertain significance | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SCN4A gene. The c.3774+20 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.The c.3774+20 A>G variant is observed in 5/11200 (0.05%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved. Several in-silico splice prediction models predict that c.3774+20 A>G may create a cryptic donor site downstream of the natural donor site and lead to abnormal gene splicing. However, 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. |
Invitae | RCV002056808 | SCV002426770 | likely benign | Familial hyperkalemic periodic paralysis | 2024-01-12 | criteria provided, single submitter | clinical testing |