Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000390855 | SCV000345013 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850468 | SCV002151934 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-08-10 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the M band of TTN (PMID: 25589632). Variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 290453). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs755986938, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 34735 of the TTN protein (p.Thr34735Met). |
Ambry Genetics | RCV002402005 | SCV002669547 | uncertain significance | Cardiovascular phenotype | 2019-11-13 | criteria provided, single submitter | clinical testing | The p.T25670M variant (also known as c.77009C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 77009. The threonine at codon 25670 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002504021 | SCV002815325 | 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 | 2021-10-31 | criteria provided, single submitter | clinical testing |