ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1880del (p.Glu627fs) (rs1601548832)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009023 SCV001168833 likely pathogenic not provided 2018-09-07 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the KCNQ2 gene. The c.1880delA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1880delA variant is not observed in large population cohorts (Lek et al., 2016). The c.1880delA variant causes a frameshift starting with codon Glutamic acid 627, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.E627GfsX15. This likely pathogenic variant is predicted to cause loss of normal protein function through protein truncation, as the last 246 amino acids are replaced by 14 incorrect amino acids. This substitution is predicted to be within the C-terminal cytoplasmic domain. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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