Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040764 | SCV000064455 | uncertain significance | not specified | 2012-10-24 | criteria provided, single submitter | clinical testing | The Arg27467Cys variant in TTN has not been reported in the literature, but has been identified by our laboratory in 1 individual with infantile LVNC. In additi on, this variant has also not been identified in large and broad European Americ an and African American populations by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). The affected amino acid is not well conserved in e volution, suggesting that a change to this position may have a weaker effect or be tolerated. Other computational analyses (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for o r against an impact to the protein. Additional information is needed to fully as sess the clinical significance of the Arg27467Cys variant. |
Invitae | RCV000464080 | SCV000542675 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490569 | SCV002775884 | 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 | 2021-07-14 | criteria provided, single submitter | clinical testing |