ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.378_459del (p.Pro127fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003022177 SCV003322007 pathogenic Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2022-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ARX-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Pro127Argfs*14) in the ARX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARX are known to be pathogenic (PMID: 19439424, 19738637).

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