ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.447_452GGCCGC[3] (p.Ala154_Ala155dup) (rs398124512)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000082606 SCV000569540 likely pathogenic not provided 2018-02-12 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the ARX gene. The c.453_458dupGGCCGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The c.453_458dupGGCCGC variant results in an in-frame duplication of two Alanine residues in the second polyalanine tract of the ARX protein, denoted p.Ala154_Ala155dup. This variant occurs in a region of the protein where the number of Alanine residues varies among species through evolution. Based on the currently available information, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. GeneDx interprets c.453_458dupGGCCGC as a likely pathogenic variant.
Invitae RCV000696832 SCV000825411 uncertain significance Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2019-07-15 criteria provided, single submitter clinical testing This variant, c.453_458dupGGCCGC, results in the insertion of 2 amino acids to the ARX protein (p.Ala154_Ala155dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ARX-related disease. ClinVar contains an entry for this variant (Variation ID: 96456). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082606 SCV000114648 uncertain significance not provided 2013-09-26 no assertion criteria provided clinical testing

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