Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641947 | SCV000763597 | pathogenic | Nemaline myopathy 5 | 2017-12-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TNNT1 are known to be pathogenic (PMID: 10952871, 24689076, 25430424). This variant has not been reported in the literature in individuals with TNNT1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys41Glnfs*22) in the TNNT1 gene. It is expected to result in an absent or disrupted protein product. |