ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.7364_7365AT[1] (p.Met2456fs) (rs797044723)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000316314 SCV000229768 likely pathogenic not provided 2015-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000316314 SCV000330125 pathogenic not provided 2016-06-27 criteria provided, single submitter clinical testing The c.7366_7367delAT pathogenic variant in the ATRX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7366_7367delAT variant causes a frameshift starting with codon Methionine 2456, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 41 of the new reading frame, denoted p.Met2456GlufsX41. The c.7366_7367delAT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. A protein truncating pathogenic variant downstream of this variant has been reported in the Human Gene Mutation Database in association with ATRX-related disorders (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. We interpret c.7366_7367delAT as a pathogenic variant.

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