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

dbSNP: rs796052657

Total submissions: 3

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 with suppression bursts	2016-01-29	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252033	SCV001427780	pathogenic	Developmental and epileptic encephalopathy, 1	2019-01-01	no assertion criteria provided	clinical testing