Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036630 | SCV000060285 | uncertain significance | not specified | 2015-07-22 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Ala211Gly variant in TPM1 has been previously identified by our laboratory in 1 Caucasian adult with DCM (Lakdawala 2012). Limited family studies are consistent with a disease causing role but insufficient to establish this with certainty (LMM unpu blished data). This variant was absent from large population studies (dbSNP rs39 7516487). Alanine (Ala) at position 211 is highly conserved in evolution and the change to glycine (Gly) was predicted to be pathogenic using a computational to ol clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). However, this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Ala211 Gly variant is uncertain. |