ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.878G>A (p.Gly293Glu)

gnomAD frequency: 0.00003  dbSNP: rs1064795142
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483351 SCV000570652 likely pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing The KCNQ3 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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 G293E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, targeted parental test results indicate this variant is assumed de novo in this individual. Therefore, we know interpret G293E as a likely pathogenic variant; however, the possibility that it is benign cannot be excluded.

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