Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187947 | SCV000241550 | pathogenic | not provided | 2013-06-24 | criteria provided, single submitter | clinical testing | c.2126_2127delCT: p.Pro709ArgfsX155 (P709Rfsx155) in exon 17 of the KCNQ2 gene (NM_172107.2). The normal sequence with the bases that are deleted in braces is: GCCCC{CT}GTCCA.The c.2126_2127delCT mutation in the KCNQ2 gene causes a frameshift starting with codon Proline 709, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 155 of the new reading frame, denoted p.Pro709ArgfsX155. This mutation results in the replacement of the last 164 amino acids of the protein with 154 incorrect amino acids. Although this mutation has not been previously reported to our knowledge, other frameshift mutations in KCNQ2 have been published in association with epilepsy. The variant is found in INFANT-EPI panel(s). |
Ambry Genetics | RCV000190798 | SCV000244239 | pathogenic | Inborn genetic diseases | 2014-03-31 | criteria provided, single submitter | clinical testing |