ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1531dup (p.Ala511fs)

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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 RCV003881679 SCV004697342 likely pathogenic Developmental and epileptic encephalopathy, 1 criteria provided, single submitter clinical testing The frameshift c.1531dup (p.Ala511GlyfsTer21)variant in ARX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Alanine 511, changes this amino acid to Glycine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Ala511GlyfsTer21. 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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