Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155837 | SCV000205548 | uncertain significance | not specified | 2015-01-14 | criteria provided, single submitter | clinical testing | The p.Lys9679Gln variant in TTN has been identified by our laboratory in 1 adole scent with DCM, but has also been identified in 7/9768 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 67720439). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predict ive enough to rule out pathogenicity. In summary, the clinical significance of t he p.Lys9679Gln variant is uncertain. |
Fulgent Genetics, |
RCV000765582 | SCV000896897 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000184455 | SCV001477124 | likely benign | not provided | 2019-09-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000155837 | SCV002571826 | uncertain significance | not specified | 2022-08-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000184455 | SCV003822207 | uncertain significance | not provided | 2020-07-20 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000184455 | SCV004225886 | uncertain significance | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | BP4 |
Gene |
RCV000184455 | SCV000237089 | not provided | not provided | 2014-07-08 | 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 CARDIOMYOPATHY panel(s). |