ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.269A>T (p.Tyr90Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005112963 SCV005729091 uncertain significance Developmental and epileptic encephalopathy, 30 2024-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 90 of the SIK1 protein (p.Tyr90Phe). This variant is present in population databases (rs764340887, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SIK1-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SIK1 protein function with a positive predictive value of 95%. 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.

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