Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040818 | SCV000064509 | uncertain significance | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | The Gly29127Arg variant (TTN) has not previously been reported in the literature nor previously identified by our laboratory. This variant has been identified i n 0.06% (2/3250) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/); however, thi s frequency is too low to confidently rule out a disease causing role. Computati onal analyses (biochemical amino acid properties, conservation, and SIFT) sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, additional information is n eeded to fully assess the clinical significance of the Gly29127Arg variant. |
Gene |
RCV000040818 | SCV000237801 | uncertain significance | not specified | 2014-12-31 | criteria provided, single submitter | 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 panel(s). |
Eurofins Ntd Llc |
RCV000726197 | SCV000342826 | uncertain significance | not provided | 2016-06-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000040818 | SCV000616184 | uncertain significance | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765538 | SCV000896853 | 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 | |
Revvity Omics, |
RCV000726197 | SCV003824772 | uncertain significance | not provided | 2019-07-18 | criteria provided, single submitter | clinical testing |