Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609584 | SCV000710938 | uncertain significance | not specified | 2016-04-14 | criteria provided, single submitter | clinical testing | The p.Met28468Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/8620 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs376942948). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Met28468Thr variant is uncertain. |
Invitae | RCV000643232 | SCV000764919 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225685 | SCV002504481 | likely benign | not provided | 2019-02-26 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002368031 | SCV002664687 | uncertain significance | Cardiovascular phenotype | 2019-04-29 | criteria provided, single submitter | clinical testing | The p.M21971T variant (also known as c.65912T>C), located in coding exon 166 of the TTN gene, results from a T to C substitution at nucleotide position 65912. The methionine at codon 21971 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, threonine is the reference amino acid in other 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. |
Revvity Omics, |
RCV002225685 | SCV003823572 | uncertain significance | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing |