ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3473+4A>G (rs794728956)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183236 SCV000235662 uncertain significance not provided 2014-05-12 criteria provided, single submitter clinical testing c.3473+4 A>G: IVS27+4 A>G in intron 27 of the ABCC9 gene (NM_020297.2) The c.3473+4 A>G variant in the ABCC9 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. In silico splice prediction algorithms demonstrate that c.3473+4 A>G may result in loss or damage of the natural splice donor site of intron 27, which may cause abnormal gene splicing. This may lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. 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 and is interpreted to be a variant of unknown significance. The variant is found in CARDIOMYOPATHY panel(s).

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