ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1415A>T (p.His472Leu)

gnomAD frequency: 0.00001  dbSNP: rs998623002
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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 RCV001038968 SCV001202473 uncertain significance Developmental and epileptic encephalopathy, 30 2022-03-25 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 C15"). ClinVar contains an entry for this variant (Variation ID: 837596). This variant has not been reported in the literature in individuals affected with SIK1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 472 of the SIK1 protein (p.His472Leu). 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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