ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2470C>T (p.Arg824Ter) (rs779866340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420026 SCV000536549 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing The R824X variant in the ABCC9 gene has not been published as pathogenic or been reported as benign to our knowledge. The R824X variant was not observed in large population cohorts. R824X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. However, the majority of variants reported in the ABCC9 gene are missense changes (Stenson et al., 2014), indicating that haploinsufficiency of ABCC9 may not be sufficient to cause disease.

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