ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala)

gnomAD frequency: 0.01018  dbSNP: rs145582574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553595 SCV000656492 benign Developmental and epileptic encephalopathy, 30 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316583 SCV000851670 benign Inborn genetic diseases 2017-04-26 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.
CeGaT Center for Human Genetics Tuebingen RCV003326465 SCV004033915 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SIK1: BP4, BS2

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