ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.293A>G (p.Lys98Arg) (rs143194379)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497536 SCV000589437 uncertain significance not provided 2016-07-27 criteria provided, single submitter clinical testing The K98R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K98R variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The K98R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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