Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000727396 | SCV000708209 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV000592616 | SCV000710936 | uncertain significance | not specified | 2017-06-28 | criteria provided, single submitter | clinical testing | The p.Gly31042Asp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 16/33524 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSN P rs373754986). Computational prediction tools and conservation analysis suggest that the variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly31042Asp variant is uncertain. |
| Invitae | RCV001323441 | SCV001514355 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 33610 of the TTN protein (p.Gly33610Asp). This variant is present in population databases (rs373754986, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of TTN-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 501729). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the M band of TTN (PMID: 25589632). Non-truncating variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). 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 | RCV002384305 | SCV002671143 | uncertain significance | Cardiovascular phenotype | 2019-07-24 | criteria provided, single submitter | clinical testing | The p.G24545D variant (also known as c.73634G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 73634. The glycine at codon 24545 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002483643 | SCV002781601 | 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 | 2021-10-08 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000727396 | SCV003822155 | uncertain significance | not provided | 2020-09-08 | criteria provided, single submitter | clinical testing |