ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.682C>T (p.His228Tyr) (rs1555873665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497460 SCV000589849 likely pathogenic not provided 2016-05-06 criteria provided, single submitter clinical testing The H228Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. A different amino acid substitution at the same position (H228Q) was previously reported to segregate with benign familial neonatal seizures (BFNS) in multiple individuals from a single family (Singh et al., 2003). The H228Y variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. It is a non-conservative amino acid substitution that occurs at a conserved position in cytoplasmic loop between transmembrane segments S4 and S5, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded

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