ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.549G>T (p.Trp183Cys)

dbSNP: rs748074366
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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 RCV001065515 SCV001230474 uncertain significance Developmental and epileptic encephalopathy, 30 2022-04-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs748074366, gnomAD 0.003%). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 183 of the SIK1 protein (p.Trp183Cys). This variant has not been reported in the literature in individuals affected with SIK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 859410). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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