ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1470C>T (p.Val490=)

gnomAD frequency: 0.00188  dbSNP: rs144693254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557287 SCV000656504 benign Developmental and epileptic encephalopathy, 30 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311884 SCV000846331 likely benign Inborn genetic diseases 2016-05-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003431119 SCV004153747 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SIK1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003431119 SCV005207475 likely benign not provided criteria provided, single submitter not provided

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