ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.563C>G (p.Ala188Gly)

dbSNP: rs1441240819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015965 SCV002289634 uncertain significance Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2021-04-24 criteria provided, single submitter clinical testing 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. This sequence change replaces alanine with glycine at codon 188 of the ARX protein (p.Ala188Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ARX-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ARX protein function.

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