ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306_308GGC[6] (p.Ala112_Ala115del) (rs387906492)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724599 SCV000227549 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000175969 SCV000567823 likely benign not specified 2018-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000812572 SCV000952890 uncertain significance Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 2018-07-05 criteria provided, single submitter clinical testing This variant, c.324_335delGGCGGCGGCGGC, results in the deletion of 4 amino acids of the ARX protein (p.Ala112_Ala115del), 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: 195400). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted 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.

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