ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)

dbSNP: rs1601945655
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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 RCV000794657 SCV000934078 pathogenic Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2020-07-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ARX gene (p.Asp519Glyfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 44 amino acids of the ARX protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ARX-related conditions. This variant disrupts the C-terminus of the ARX protein. Other variant(s) that disrupt this region (p.Arg527Alafs*5) have been determined to be pathogenic (PMID: 31623504). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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