ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs)

gnomAD frequency: 0.00019  dbSNP: rs1474186338
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706153 SCV000835188 uncertain significance Developmental and epileptic encephalopathy, 30 2024-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala615Valfs*76) in the SIK1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 169 amino acid(s) of the SIK1 protein. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SIK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 582156). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000706153 SCV002789309 uncertain significance Developmental and epileptic encephalopathy, 30 2021-12-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.