ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.451_464del (p.Ala151fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003486493 SCV004241177 pathogenic Developmental and epileptic encephalopathy, 1 2023-12-15 criteria provided, single submitter clinical testing Variant summary: ARX c.451_464del14 (p.Ala151LeufsX82) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 14421 control chromosomes. To our knowledge, no occurrence of c.451_464del14 in individuals affected with Developmental and epileptic encephalopathy and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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