ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) (rs796052657)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187931 SCV000241533 pathogenic not provided 2014-02-07 criteria provided, single submitter clinical testing c.1160delC: p.Pro387ArgfsX2 (P387RfsX2) in exon 10 of the KCNQ2 gene (NM_172107.2) The normal sequence with the base that is deleted in braces is TCCCCC{C}GCTG.The c.1160delC mutation in the KCNQ2 gene causes a frameshift starting with codon Proline 387, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Pro387ArgfsX2. This mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated decay. Although this mutation has not been previously reported to our knowledge, other truncating mutations have been reported in KCNQ2 in association with epilepsy. The variant is found in INFANT-EPI panel(s).
Invitae RCV000226746 SCV000291564 pathogenic Early infantile epileptic encephalopathy 2016-01-29 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 10 of the KCNQ2 mRNA (c.1160delC), causing a frameshift at codon 387. This creates a premature translational stop signal (p.Pro387Argfs*2) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in KCNQ2 are known to be pathogenic (14534157). For these reasons, this variant has been classified as Pathogenic.

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