ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1231A>G (p.Ser411Gly)

dbSNP: rs2081047181
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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 RCV001304377 SCV001493654 uncertain significance Developmental and epileptic encephalopathy, 30 2020-10-23 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of early infantile epileptic encephalopathy (Invitae). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SIK1 protein function. This sequence change replaces serine with glycine at codon 411 of the SIK1 protein (p.Ser411Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant disrupts the p.Ser411 amino acid residue in SIK1. Other variant(s) that disrupt this residue have been observed in individuals with SIK1-related conditions (PMID: 25839329), which suggests that this may be a clinically significant amino acid residue. 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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