ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser)

gnomAD frequency: 0.00006  dbSNP: rs780476959
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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 RCV000816229 SCV000956726 uncertain significance Developmental and epileptic encephalopathy, 30 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 639 of the SIK1 protein (p.Gly639Ser). This variant is present in population databases (rs780476959, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of SIK1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 659253). 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 with a negative 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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