ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2035G>A (p.Asp679Asn) (rs773672399)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433881 SCV000536539 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing The D679N variant in the KCNQ3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D679N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D679N 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 where amino acids with similar properties to Aspartic acid 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. We interpret D679N as a variant of uncertain significance.

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