ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521018 SCV000621298 pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The R144W variant in the KCNQ2 gene has been reported previously not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a missense variant at this same codon (R144Q) has been reported in association with a KCNQ2-related disorder (Allen et al., 2013). The R144W variant is not observed in large population cohorts (Lek et al., 2016). The R144W 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R144W as a pathogenic variant.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760201 SCV000890031 likely pathogenic Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 2017-11-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001089799 SCV001237460 likely pathogenic Intellectual disability 2020-04-15 no assertion criteria provided clinical testing

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