ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1919A>G (p.Lys640Arg) (rs1555100847)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521874 SCV000620073 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCC9 gene. The K640R variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across most species with arginine (R) being present as the wild type in at least one species. In silico analysis suggests that this variant is probably damaging to the protein structure/function. However, the K640R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.

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