ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.806G>T (p.Trp269Leu) (rs796052633)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187876 SCV000241476 likely pathogenic not provided 2013-01-09 criteria provided, single submitter clinical testing p.Trp269Leu (TGG>TTG): c.806 G>T in exon 5 of the KCNQ2 gene (NM_172107.2)The Trp269Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Trp269Leu in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as Tryptophan and Leucine are both uncharged, non-polar amino acids. However, it alters a highly conserved position in the pore loop between the S5 and S6 transmembrane segments, and other missense mutations in this region have been reported in association with benign familial neonatal seizures and neonatal epileptic encephalopathy. Multiple in silico algorithms predict Trp269Leu may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Trp269Leu is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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