Description
p.Ala97Gly (GCC>GGC): c.290 C>G in exon 2 of the KCNH2 gene (NM_000238.2)The Ala97Gly variant in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. Ala97Gly results in a conservative amino acid substitution of one non-polar residue for another at a position that is conserved through mammals in evolution. Nevertheless, mutations affecting nearby residues (Val94Gly, Ile96Thr, Ile96Val, Tyr99Ser) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Ala97Gly was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.In summary, with the clinical and molecular information available at this time, we cannot unequivocally determine the clinical significance of the Ala97Gly variant. The variant is found in LQT panel(s).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
