Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV000184476 | SCV003821226 | uncertain significance | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000184476 | SCV001472775 | uncertain significance | not provided | 2020-08-11 | criteria provided, single submitter | clinical testing | The TTN c.34954G>T; p.Val11652Leu variant (rs371752190; ClinVar Variation ID: 202593) is rare in the general population (<0.2% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Val11652Leu variant cannot be determined with certainty. |
| Labcorp Genetics |
RCV000470681 | SCV000543114 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-11 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000184476 | SCV000237116 | not provided | not provided | 2014-06-20 | no assertion provided | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s). |