Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000082606 | SCV000569540 | likely pathogenic | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing | Alanine repeat expansion in the second polyalanine tract of the ARX protein, extending the allele to 14 repeats; Polyalanine repeat expansions of 12 or fewer repeats have been observed in unaffected adult males undergoing testing at GeneDx; Polyalanine repeat expansions of 13-19 repeats have not been previously reported in the literature, to our knowledge (Stenson et al., 2014) |
| Invitae | RCV000696832 | SCV000825411 | uncertain significance | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2022-10-25 | criteria provided, single submitter | clinical testing | This variant, c.453_458dup, results in the insertion of 2 amino acid(s) of the ARX protein (p.Ala154_Ala155dup), 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 not been reported in the literature in individuals affected with ARX-related conditions. ClinVar contains an entry for this variant (Variation ID: 96456). 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. |
| Eurofins Ntd Llc |
RCV000082606 | SCV000114648 | uncertain significance | not provided | 2013-09-26 | no assertion criteria provided | clinical testing |