ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2813G>A (p.Arg938Gln) (rs201838439)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171852 SCV000050873 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171852 SCV000583138 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCC9 gene. The R938Q variant has not been published as pathogenic or been reported as benign to our knowledge, but has been reported as a variant of uncertain significance in one individual from a cohort of individuals who underwent whole exome sequencing who were not selected for arrhythmia, cardiomyopathy, or family history of sudden cardiac death (Ng et al., 2013). The R938Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R938Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Furthermore, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with ABCC9-related disorders (Stenson et al., 2014).

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