Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187848 | SCV000241448 | pathogenic | not provided | 2013-05-28 | criteria provided, single submitter | clinical testing | p.Tyr98Stop (TAC>TAG): c.294 C>G in exon 1 of the KCNQ2 gene (NM_172107.2)The Tyr98Stop nonsense mutation in the KCNQ2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, other nonsense mutations have been reported in the KCNQ2 gene. The variant is found in INFANT-EPI panel(s). |