ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) (rs398123425)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078965 SCV000110830 pathogenic not provided 2014-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000078965 SCV000520865 pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing The c.536 A>G pathogenic variant in the ATRX gene has been reported previously in association with ATRX-related disorders (Picketts et al., 1996; Badens et al., 2006; Wada et al., 2000). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Functional studies indicate that c.536 A>G creates a cryptic splice donor site, leading to a deletion of 63 nucleotides (reported as A751G using alternate nomenclature in Villard et al., 1997; reported as A869G using alternate nomenclature in Picketts et al., 1996). This substitution occurs in the ADD domain and pathogenic variants affecting this domain are presumed to have structural consequences on the ATRX protein and impact histone methylation (Argentaro et al., 2007; Iwase et al., 2011; Stenson et al., 2014).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850379 SCV000992564 pathogenic Mental retardation-hypotonic facies syndrome X-linked, 1 2019-06-25 criteria provided, single submitter research

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