ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3178-3C>T (rs1564393740)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718367 SCV000849229 uncertain significance Seizures 2017-03-14 criteria provided, single submitter clinical testing The c.3178-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 29 in the KCNT1 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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