ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.43G>A (p.Gly15Ser)

gnomAD frequency: 0.18525  dbSNP: rs3746951
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713292 SCV000843881 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312252 SCV000846104 benign Inborn genetic diseases 2016-01-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522240 SCV001731742 benign Developmental and epileptic encephalopathy, 30 2025-02-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004597870 SCV005091603 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 53% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 49. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000713292 SCV005278916 benign not provided criteria provided, single submitter not provided

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