Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172710 | SCV000051500 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000152443 | SCV000201520 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Gln4830Arg in Exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (12/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs144905085). |
Eurofins Ntd Llc |
RCV000152443 | SCV000702897 | likely benign | not specified | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172710 | SCV001746687 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS1 |
Prevention |
RCV003952735 | SCV004771669 | likely benign | TTN-related condition | 2022-03-09 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Gene |
RCV000172710 | SCV000238130 | not provided | not provided | 2014-10-29 | 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). |