ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser)

dbSNP: rs772047499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767832 SCV001999635 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Neuberg Centre For Genomic Medicine, NCGM RCV003446903 SCV004171927 uncertain significance Developmental and epileptic encephalopathy, 30 criteria provided, single submitter clinical testing The missense c.2065T>A(p.Cys689Ser) in SIK1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Cys689Ser variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has been reported to the ClinVar database as Uncertain Significance. The amino acid change p.Cys689Ser in SIK1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Cys at position 689 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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