ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003331538 SCV004048272 likely pathogenic Developmental and epileptic encephalopathy, 76 criteria provided, single submitter clinical testing The frameshift variant c.695dup (p.Asn233LysfsTer17) in ACTL6B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn233LysfsTer17 variant is novel (not in any individuals) in 1000 Genomes and allele frequency of 0.008648% is reported in gnomAD. This variant causes a frameshift starting with codon Asparagine 233, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Asn233LysfsTer17. For these reasons, this variant has been classified as Likely Pathogenic .
Houlden Lab, UCL Institute of Neurology RCV003331538 SCV003920666 pathogenic Developmental and epileptic encephalopathy, 76 no assertion criteria provided research

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