Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001760279 | SCV001990366 | uncertain significance | not provided | 2019-10-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Located in the M band of TTN and results in the deletion and insertion of three amino acids |
Ambry Genetics | RCV002402779 | SCV002673137 | uncertain significance | Cardiovascular phenotype | 2022-01-12 | criteria provided, single submitter | clinical testing | The c.76743_76750delTTACTACCinsCTCTTGGG variant (also known as p.Y25582_R25584delinsSWG), located in coding exon 185 of the TTN gene, results from an in-frame deletion of TTACTACC and insertion of CTCTTGGG at nucleotide positions 76743 to 76750. This results in the substitution of the tyrosine, tyrosine and arginine residues for serine, tryptophan and glycine residues at codons 25582 to 25584. These amino acid positions are well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002491820 | SCV002799575 | 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 | 2022-02-15 | criteria provided, single submitter | clinical testing |