ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) (rs74315392)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187872 SCV000241472 pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing p.Ser247Leu (TCG>TTG): c.740 C>T in exon 5 in the KCNQ2 gene (NM_172107.2). The S247L mutation in the KCNQ2 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The S247L variant 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. Another missense variant at this residue (S247W) has been reported in association with neonatal convulsions and epileptic encephalopathy (Dedek et al., 2003). The S247L pathogenic 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 highly conserved across species within the S5 segment of the transmembrane domain. The variant is found in KCNQ2,KCNQ2, panel(s).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000187872 SCV000575318 likely pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622359 SCV000741048 pathogenic Inborn genetic diseases 2015-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected

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