ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)

dbSNP: rs387906492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000722506 SCV001829422 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868920 SCV002253836 uncertain significance Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2023-11-14 criteria provided, single submitter clinical testing This variant, c.321_335del, results in the deletion of 5 amino acid(s) of the ARX protein (p.Ala111_Ala115del), 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: 591328). 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.
Gharavi Laboratory, Columbia University RCV000722506 SCV000853637 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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