ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1738del (p.Ala580fs) (rs886039493)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255012 SCV000322146 pathogenic not provided 2015-08-26 criteria provided, single submitter clinical testing The c.1738delG variant in the ATRX gene causes a frameshift starting with codon Alanine 580, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.A580LfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. 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.

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