Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155008 | SCV000204690 | uncertain significance | not specified | 2013-07-25 | criteria provided, single submitter | clinical testing | The Ser3228Cys variant in TTN has been observed in one individual with dilated cardiomyopathy tested by our laboratory, and has been identified in 1/8600 Europ ean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ser3228Cys varian t may impact the normal function of the TTN protein, though this information is not predictive enough to determine pathogenicity. Additional information is nee ded to fully assess the clinical significance of the Ser3228Cys variant. |
Fulgent Genetics, |
RCV000765586 | SCV000896901 | 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 | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486697 | SCV004240223 | likely benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing |