ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) (rs796052631)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187873 SCV000241473 likely pathogenic not provided 2012-10-03 criteria provided, single submitter clinical testing p.Phe261Ser (TTT>TCT):c.782 T>C in exon 5 of the KCNQ2 gene (NM_172107.2)The Phe261Ser 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 Phe261Ser in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This amino acid substitution is non-conservative, as a non-polar Phenylalanine residue is replaced by a polar Serine residue. Phe261Ser alters a highly conserved position in the pore loop between the 5th and 6th transmembrane domains of the protein, and other missense mutations in this region of the protein have been reported in association with KCNQ2-related disorders. Additionally, multiple in silico algorithms predict Phe261Ser may be damaging to protein structure/function. Therefore, the currently available information suggests that Phe261Ser may be a disease-causing mutation, but the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSY panel(s).
Ambry Genetics RCV000720905 SCV000851789 uncertain significance Seizures 2016-06-27 criteria provided, single submitter clinical testing Insufficient evidence

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