Submissions for variant NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)

dbSNP: rs1556056154

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000558205	SCV000652328	pathogenic	Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related	2022-10-13	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 473011). This variant results in expansion of a poly-alanine tract in ARX. Expansions of the alanine tracts in ARX have been observed in individuals with ARX-related conditions (PMID: 11889467, 17664401, 23246292). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.423_455dup33, c.424_453dup, and dup33. This variant, c.426_458dup, results in the insertion of 11 amino acid(s) of the ARX protein (p.Gly143_Ala153dup), but otherwise preserves the integrity of the reading frame. 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 variant has been observed in individual(s) with X-linked intellectual disability and neurological disorders (PMID: 19507262). It has also been observed to segregate with disease in related individuals.