ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1902C>G (p.Ser634Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002303676 SCV002593419 uncertain significance Developmental and epileptic encephalopathy, 30 2022-09-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SIK1-related conditions. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 634 of the SIK1 protein (p.Ser634Arg).
Ambry Genetics RCV003097956 SCV003558824 uncertain significance Inborn genetic diseases 2021-04-08 criteria provided, single submitter clinical testing The c.1902C>G (p.S634R) alteration is located in exon 13 (coding exon 12) of the SIK1 gene. This alteration results from a C to G substitution at nucleotide position 1902, causing the serine (S) at amino acid position 634 to be replaced by an arginine (R). The p.S634R alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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