ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)

dbSNP: rs398124508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001311829 SCV000729287 benign not provided 2020-06-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30496128)
CeGaT Center for Human Genetics Tuebingen RCV001311829 SCV001502145 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001316569 SCV001507197 uncertain significance Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2022-10-21 criteria provided, single submitter clinical testing This variant, c.1315_1320dup, results in the insertion of 2 amino acid(s) of the ARX protein (p.Ala439_Ala440dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant has been observed in individuals with clinical features of epileptic encephalopathy (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002528724 SCV003601959 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.1315_1320dupGCCGCC (p.A439_A440dup) alteration is located in exon 4 (coding exon 4) of the ARX gene. The alteration consists of an in-frame duplication of 6 nucleotides from position 1315 to 1320, resulting in the duplication of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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