Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152242 | SCV000201047 | uncertain significance | not specified | 2014-07-10 | criteria provided, single submitter | clinical testing | The Ala20035Val variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/594 of European chromosomes by the ClinSeq Project (dbSNP rs199583938). Computational prediction tools and cons ervation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Ala20035Val variant is unc ertain. |
Gene |
RCV000152242 | SCV000237461 | uncertain significance | not specified | 2017-01-10 | 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 CARDIOMYOPATHY panel(s). |
Invitae | RCV000471840 | SCV000542318 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-10-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619665 | SCV000735913 | uncertain significance | Cardiovascular phenotype | 2020-02-05 | criteria provided, single submitter | clinical testing | The p.A13538V variant (also known as c.40613C>T), located in coding exon 147 of the TTN gene, results from a C to T substitution at nucleotide position 40613. The alanine at codon 13538 is replaced by valine, 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. |
Eurofins Ntd Llc |
RCV000733452 | SCV000861523 | uncertain significance | not provided | 2018-06-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498710 | SCV002812269 | 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 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000733452 | SCV003826701 | uncertain significance | not provided | 2023-01-03 | criteria provided, single submitter | clinical testing |