ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser)

gnomAD frequency: 0.00005  dbSNP: rs371187842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193088 SCV000246757 uncertain significance not specified 2015-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001360060 SCV001555955 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2024-03-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1265 of the ATRX protein (p.Asn1265Ser). This variant is present in population databases (rs371187842, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with ATRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 210495). 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 ATRX protein function with a negative predictive value of 95%. 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.
Natera, Inc. RCV001360060 SCV002087292 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-04-11 no assertion criteria provided clinical testing

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