Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036328 | SCV000059980 | likely pathogenic | Primary dilated cardiomyopathy | 2011-11-14 | criteria provided, single submitter | clinical testing | The Glu114Gly variant (TPM1) has not been previously reported, but has been iden tified in 1 individual with DCM out of >2000 Caucasian probands tested by our la boratory. This low frequency supports a pathogenic role. In addition, glutamic a cid (Glu) is highly conserved across evolutionarily distant species, increasing the likelihood that a change would not be tolerated. Finally, this variant was p redicted to be pathogenic using a computational tool, which was validated by our laboratory using a set of cardiomyopathy variants with well-established clinica l significance. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, the Glu114Gly variant is likely to be pa thogenic, though segregation studies and functional analyses are required to est ablish this with certainty. |