ClinVar Miner

Submissions for variant NM_173354.5(SIK1):c.499+10_499+11delinsCC

dbSNP: rs2146474030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398949 SCV001600732 likely benign Developmental and epileptic encephalopathy, 30 2024-06-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987863 SCV004803308 likely benign not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: SNF1LK c.499+10_499+11delinsCC alters nucleotides located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.4e-05 in 279556 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.499+10_499+11delinsCC in individuals affected with Developmental And Epileptic Encephalopathy, 30 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1082570). Based on the evidence outlined above, the variant was classified as likely benign.

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