ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.1246-5C>T

gnomAD frequency: 0.00019  dbSNP: rs371389145
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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 RCV000878106 SCV001020956 likely benign Developmental and epileptic encephalopathy, 30 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390852 SCV002670884 likely benign Inborn genetic diseases 2018-07-19 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000878106 SCV003920475 likely benign Developmental and epileptic encephalopathy, 30 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.04% (48/111448) (https://gnomad.broadinstitute.org/variant/21-44839122-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:707210). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Splice prediction tools do not suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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