ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp)

gnomAD frequency: 0.00424  dbSNP: rs34164089
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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 RCV001084738 SCV000656498 benign Developmental and epileptic encephalopathy, 30 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315032 SCV000848817 benign Inborn genetic diseases 2016-02-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV000559968 SCV001145629 benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000559968 SCV005275363 benign not provided criteria provided, single submitter not provided

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