Submissions for variant NM_004519.4(KCNQ3):c.1060G>T (p.Gly354Trp) (rs796052680)

Total submissions: 1

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).