ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.37G>A (p.Gly13Ser)

gnomAD frequency: 0.00001  dbSNP: rs758084408
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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 RCV001060322 SCV001225002 uncertain significance Developmental and epileptic encephalopathy, 30 2021-04-05 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with SIK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 855132). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with serine at codon 13 of the SIK1 protein (p.Gly13Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.

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