Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172207 | SCV000054900 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV001215021 | SCV001386740 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2019-11-15 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with threonine at codon 29827 of the TTN protein (p.Pro29827Thr). There is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs201620815, ExAC 0.2%). This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 191859). This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. 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. |
Ambry Genetics | RCV002362886 | SCV002658488 | uncertain significance | Cardiovascular phenotype | 2020-01-09 | criteria provided, single submitter | clinical testing | The p.P20762T variant (also known as c.62284C>A), located in coding exon 161 of the TTN gene, results from a C to A substitution at nucleotide position 62284. The proline at codon 20762 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is 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. |