ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.108del (p.Arg37fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465416 SCV002760088 uncertain significance Developmental and epileptic encephalopathy, 14 2022-11-29 criteria provided, single submitter research
Neuberg Centre For Genomic Medicine, NCGM RCV002465416 SCV004047860 likely pathogenic Developmental and epileptic encephalopathy, 14 criteria provided, single submitter clinical testing The frame shift c.108del (p.Arg37GlyfsTer18) variant in KCNT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Arginine 37, changes this amino acid to Glycine residue, and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Arg37GlyfsTer18. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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