Submissions for variant NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)

dbSNP: rs1365611175

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001851801	SCV002194857	pathogenic	Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related	2022-06-16	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. 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). ClinVar contains an entry for this variant (Variation ID: 11202). This variant is also known as 298_330dupGCGGCA(GCG)9. This variant has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 17668384). In at least one individual the variant was observed to be de novo. 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, c.309_341dup, results in the insertion of 11 amino acid(s) of the ARX protein (p.Ala105_Ala115dup), but otherwise preserves the integrity of the reading frame.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000011953	SCV005900229	pathogenic	Developmental and epileptic encephalopathy, 1	2025-03-04	criteria provided, single submitter	clinical testing
OMIM	RCV000011953	SCV000032187	pathogenic	Developmental and epileptic encephalopathy, 1	2007-08-01	no assertion criteria provided	literature only