Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Equipe Genetique des Anomalies du Developpement, |
RCV001526627 | SCV001737057 | likely pathogenic | Neonatal hypotonia | criteria provided, single submitter | clinical testing | ||
| Labcorp Genetics |
RCV001882566 | SCV002295171 | likely pathogenic | Alpha thalassemia-X-linked intellectual disability syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | 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 expected to disrupt ATRX protein function. ClinVar contains an entry for this variant (Variation ID: 1172655). This missense change has been observed in individuals with ATRX-related conditions (PMID: 10995512, 22129561). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 1847 of the ATRX protein (p.Tyr1847Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. Studies have shown that this missense change alters ATRX gene expression (PMID: 21505078). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV005040305 | SCV005678850 | likely pathogenic | Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 2024-02-27 | criteria provided, single submitter | clinical testing |