ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)

dbSNP: rs387906493
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487265 SCV000572760 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing In-frame duplication of one Glycine and 7 Alanine residues in the second polyalanine tract of the ARX protein; Has not been previously published as pathogenic or benign to our knowledge; Observed in hemizygous state in two patients referred for epilepsy genetic testing at GeneDx and not observed in hemizygous state in controls; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20300201)
Labcorp Genetics (formerly Invitae), Labcorp RCV000700342 SCV000829094 pathogenic Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related 2024-05-09 criteria provided, single submitter clinical testing This variant, c.428_451dup, results in the insertion of 8 amino acid(s) of the ARX protein (p.Gly143_Ala150dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs387906493, gnomAD 0.02%). This variant has been observed in individual(s) with ARX-related conditions (PMID: 16235064, 20506206, 21204215, 26029707). It has also been observed to segregate with disease in related individuals. This variant is also known as c.441_464 and dup24. ClinVar contains an entry for this variant (Variation ID: 11187). Studies have shown that this variant alters ARX gene expression (PMID: 17331656). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011937 SCV000032170 pathogenic Developmental and epileptic encephalopathy, 1 2007-05-04 no assertion criteria provided literature only
OMIM RCV000033212 SCV000057059 pathogenic Partington syndrome 2007-05-04 no assertion criteria provided literature only
OMIM RCV001580167 SCV001809803 pathogenic Intellectual disability, X-linked, with or without seizures, ARX-related 2007-05-04 no assertion criteria provided literature only

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