ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3201del (p.Leu1068fs) (rs794728958)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183239 SCV000235665 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing Although the c.3201delT variant in the ABCC9 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Leucine 1068, changing it to a Phenylalanine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Leu1068PhefsX9. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. However, while missense variants in this regulatory K-ATP channel subunit result in defective ion channel function and confer susceptibility to dilated cardiomyopathy, haploinsufficiency is not thought to be a mechanism of disease for ABCC9-related cardiomyopathy (Bienengraeber M et al., 2004). 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.

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