Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226895 | SCV000286733 | likely pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2019-10-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Likely Pathogenic. This sequence change creates a premature translational stop signal at codon 19003 (p.Ser19003*). It is expected to result in a truncated protein product. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are likely pathogenic (PMID: 25589632). This variant is not present in population databases (ExAC no frequency). ClinVar contains an entry for this variant (Variation ID: 238805). |