ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.742T>C (p.Ser248Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458290 SCV004177213 uncertain significance Developmental and epileptic encephalopathy, 30 2023-08-25 criteria provided, single submitter clinical testing The SIK1 c.742T>C (p.Ser248Pro) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are uncertain as to the impact of this variant on SIK1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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