ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.4205C>G (p.Ser1402Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706003 SCV000835030 uncertain significance Dilated cardiomyopathy 1O 2018-02-26 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1402 of the ABCC9 protein (p.Ser1402Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with QT prolongation and conduction disease, who also carried a pathogenic variant (p.Glu1784Lys) in SCN5A (PMID: 24439875). In this individual, the pathogenic SCN5A variant was inherited from the mother with QT prolongation and conduction disease, while this variant in ABCC9 was inherited from the father with early repolarization on ECG. Experimental studies have shown that this missense change is associated with reduced sensitivity to ATP when expressed in the ATP-sensitive potassium channel KCNJ11 in HEK293 cells (PMID: 24439875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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