ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) (rs122445108)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV000224314 SCV000281747 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680146 SCV000807591 pathogenic X-linked intellectual disability-hypotonic face syndrome 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in an 8-year-old male with intellectual disability, hypotonia, dysmorphic features, GERD, febrile seizure, short stature, mirocephaly.
Raymond Lab,University of Cambridge RCV000224314 SCV000897756 likely pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000148028 SCV000965785 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2014-01-01 criteria provided, single submitter clinical testing
Invitae RCV000148028 SCV001582830 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2020-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg37*) in the ATRX gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of alpha-thalassemia X-linked intellectual disability syndrome (PMID: 10632111, 15508018, 24805811). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 11742). Experimental studies have shown that this variant does not significantly alter or has an unclear effect on ATRX gene expression (PMID: 15508018, 15591283). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012508 SCV000032742 pathogenic Mental retardation-hypotonic facies syndrome, X-linked 2004-12-01 no assertion criteria provided literature only
GeneReviews RCV000148028 SCV000195529 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2014-11-06 no assertion criteria provided literature only

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