ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1733T>C (p.Met578Thr) (rs1555853524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520011 SCV000620968 likely pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing The M578T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M578T variant is not observed in large population cohorts (Lek et al., 2016). This 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, and different missense variants at the same position (M578I/V) have been reported in individuals with KCNQ2-related disorders, including as a de novo variant in an individual with neonatal epilepsy (Numis et al., 2014; Grinton et al., 2015). Additionally, missense variants in nearby residues (R581G/Q) have been reported in the Human Gene Mutation Database in association with KCNQ2-related disorders (Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function.

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