ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.397+2T>C

dbSNP: rs200255759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823465 SCV002072916 likely pathogenic Developmental and epileptic encephalopathy, 15 criteria provided, single submitter clinical testing The splice donor variant c.397+2T>C in ST3GAL3 (NM_006279.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.397+2T>C variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The variant affects an invariant splice nucleotide and predictions suggest disruption of splice site. Loss of function variants have been reported previously in epileptic encephalopathy. For these reasons, this variant has been classified as Likely Pathogenic.

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