ClinVar Miner

Submissions for variant NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) (rs1590106815)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853393 SCV000996271 likely pathogenic Epilepsy, progressive myoclonic 7 2019-03-29 criteria provided, single submitter clinical testing This frameshifting variant occurs in exon 2 of 4 in the ENST00000265969 transcript (known as Kv3.1B in the literature), and exon 2 of 2 in the ENST00000379472 transcript (known as Kv3.1A in the literature). The variant introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.1370del, p.Lys457ArgfsTer20 variant is classified as Likely Pathogenic.

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