ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)

dbSNP: rs387906492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192640 SCV000246559 pathogenic X-linked lissencephaly with abnormal genitalia 2014-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798531 SCV000938151 pathogenic Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2018-11-21 criteria provided, single submitter clinical testing This variant results in expansion of the p.Ala100-Ala115 alanine tract in ARX. Expansions of the alanine tract 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. Experimental studies have shown that this polyalanine expansion results in protein mislocalization, aggregation, and loss of ARX protein function (PMID: 15533998). This variant has been observed in an individual with clinical features of ARX-related disease (PMID: 23583054). This variant is also known as c.333_335dup(GGC)8 in the literature. ClinVar contains an entry for this variant (Variation ID: 210327). 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, c.312_335dup24, results in the insertion of eight amino acid(s) to the ARX protein (p.Ala108_Ala115dup), but otherwise preserves the integrity of the reading frame.

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