ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.409G>A (p.Val137Met)

gnomAD frequency: 0.00001  dbSNP: rs141382693
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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 RCV000800063 SCV000939761 uncertain significance Developmental and epileptic encephalopathy, 30 2018-11-14 criteria provided, single submitter clinical testing 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: "Deleterious"; 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. This variant has not been reported in the literature in individuals with SIK1-related disease. This sequence change replaces valine with methionine at codon 137 of the SIK1 protein (p.Val137Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs141382693, ExAC 0.002%).

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