ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.797A>G (p.Tyr266Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004787561 SCV005402673 likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 2024-11-20 criteria provided, single submitter clinical testing This variant was detected in a male with severe intellectual disability and renal hypoplasia. This variant in the X-linked gene was confirmed to be inherited from unaffected mother and was found in his healthy sister as well. Rare missense variants affecting the ATRX gene are well documented as a molecular cause of "X-linked alpha-thalassemia/impaired intellectual development syndrome" (OMIM:301040) (PMID:16813605;1770528;7726225;11449489). To conclude, the variant is classified as likely pathogenic (ACMG PM2, PM1, PP3, PP2).

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