Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156205 | SCV000205921 | likely benign | not specified | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.Ile18109Thr variant in TTN is classified as likely benign because it has been identified in 0.03% (10/30594) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1. |
Eurofins Ntd Llc |
RCV000184687 | SCV000338418 | uncertain significance | not provided | 2016-01-05 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149954 | SCV003838586 | likely benign | Cardiomyopathy | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000184687 | SCV004237382 | uncertain significance | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000184687 | SCV000237382 | not provided | not provided | 2014-04-08 | 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). |