ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2019G>A (p.Lys673=) (rs794728954)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183232 SCV000235656 uncertain significance not provided 2013-12-16 criteria provided, single submitter clinical testing p.Lys673Lys (AAG>AAA): c.2019 G>A in exon 14 of the ABCC9 gene (NM_020297.2). Although the c.2019 G>A variant has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this variant may alter or abolish the canonical splice donor site in intron 14 and may cause abnormal gene splicing. This variant, which alters the last base of exon 14, immediately 5' of the canonical GT" of the splice donor site, 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, no other splice site mutations in the ABCC9 gene have been reported in association with cardiomyopathy. With the clinical and molecular information available, it is unclear if c.2019 G>A is a disease-causing mutation or a rare benign variant and it is interpreted to be a variant of unknown significance. The variant is found in CARDIOMYOPATHY panel(s)."

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