Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000302755 | SCV000237440 | uncertain significance | not specified | 2014-05-16 | 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-CRDM panel(s). |
Eurofins Ntd Llc |
RCV000724911 | SCV000332360 | uncertain significance | not provided | 2015-06-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000457230 | SCV000542471 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852510 | SCV000995206 | uncertain significance | Sudden cardiac arrest | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354504 | SCV002621752 | uncertain significance | Cardiovascular phenotype | 2019-05-29 | criteria provided, single submitter | clinical testing | The p.G13125R variant (also known as c.39373G>C), located in coding exon 143 of the TTN gene, results from a G to C substitution at nucleotide position 39373. The glycine at codon 13125 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002478641 | SCV002777965 | 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 | 2021-11-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000724911 | SCV003821218 | uncertain significance | not provided | 2019-11-18 | criteria provided, single submitter | clinical testing |