Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216869 | SCV000272626 | uncertain significance | not specified | 2015-03-30 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Glu9573Lys va riant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Glutamic acid (Glu) at position 9573 is not con served in mammals or evolutionarily distant species and >10 bird and reptile spe cies carry a lysine (Lys) at this position, raising the possibility that this ch ange may be tolerated. In summary, while the clinical significance of the p.Glu9 573Lys variant is uncertain, the presence of the variant amino acid in multiple other species suggests it is more likely to be benign. |