ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1060G>T (p.Gly354Trp)

dbSNP: rs796052680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187973 SCV000241576 uncertain significance not provided 2014-07-28 criteria provided, single submitter clinical testing p.Gly354Trp (GGG>TGG): c.1060 G>T in exon 7 of the KCNQ3 gene (NM_004519.2) The G354W variant has not been published as a mutation, nor has it been reported as a benign polymorphism 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 G354W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution alters a conserved position in the predicted C-terminal cytoplasmic domain of the KCNQ3 protein, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense mutations in nearby residues have not been reported in association with KCNQ3-related disorders. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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