ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1829G>T (p.Arg610Leu)

dbSNP: rs770153649
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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 RCV001969250 SCV002256466 uncertain significance Developmental and epileptic encephalopathy, 30 2022-08-22 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. 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. ClinVar contains an entry for this variant (Variation ID: 1472322). This missense change has been observed in individual(s) with clinical features of SIK1-related conditions (PMID: 31780880). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 610 of the SIK1 protein (p.Arg610Leu).

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