ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1305G>A (p.Trp435Ter) (rs1555113677)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498694 SCV000590604 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing The W435X variant in the ABCC9 gene has not been reported as a pathogenic or benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The W435X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. However, the vast majority of reported pathogenic variants 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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