Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155776 | SCV000205487 | uncertain significance | not specified | 2013-07-18 | criteria provided, single submitter | clinical testing | The Thr20353Ile variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein, though 1 mammal, dolphin, carries an i soleucine (Ile, this variant), raising the possibility that this change may be t olerated. Additional information is needed to fully assess the clinical signific ance of this variant. |
Gene |
RCV000155776 | SCV000236781 | uncertain significance | not specified | 2015-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000244691 | SCV000319144 | uncertain significance | Cardiovascular phenotype | 2013-11-20 | criteria provided, single submitter | clinical testing | The p.T20353I variant (also known as c.61058C>T) is located in coding exon 271 of the TTN gene. This alteration results from a C to T substitution at nucleotide position 61058. The threonine at codon 20353 is replaced by isoleucine, an amino acid with similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not reported in 6030 samples (12060 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is not conserved in available vertebrate species, with isoleucine as the reference amino acid in two species. In addition, this alteration is predicted to be benignby PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Invitae | RCV000934827 | SCV001080559 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-08-19 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170574 | SCV001333162 | benign | Cardiomyopathy | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288921 | SCV001476361 | likely benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001288921 | SCV003821024 | uncertain significance | not provided | 2022-12-21 | criteria provided, single submitter | clinical testing |