ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu)

dbSNP: rs1006861899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992982 SCV001145628 uncertain significance not provided 2019-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549821 SCV002940481 uncertain significance Developmental and epileptic encephalopathy, 30 2024-03-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 362 of the SIK1 protein (p.Pro362Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SIK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 805453). 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 with a negative predictive value of 95%. 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.
Ambry Genetics RCV004958355 SCV005501316 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The c.1085C>T (p.P362L) alteration is located in exon 9 (coding exon 8) of the SIK1 gene. This alteration results from a C to T substitution at nucleotide position 1085, causing the proline (P) at amino acid position 362 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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