ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3783T>A (p.Tyr1261Ter) (rs794728953)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183228 SCV000235652 uncertain significance not provided 2017-12-04 criteria provided, single submitter clinical testing p.Tyr1261Stop (TAT>TAA): c.3783 T>A in exon 31 of the ABCC9 gene (NM_020297.2). Although rare, mutations in the ABCC9 gene have been reported in association with dilated cardiomyopathy (Bienengraeber M et al., 2004). Missense mutations in the ABCC9 gene have also been reported in association with Cantu Syndrome, which is characterized by congenital hypertrichosis, neonatal macrosomia, osteochondrodysplasia, and cardiomegaly (Harakalova M et al., 2012; van Bon B et al. 2012). The Y1261X variant in the ABCC9 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Y1261X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. However, the majority of disease-causing mutations in the ABCC9 gene are missense changes. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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