Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193446 | SCV000249284 | uncertain significance | not specified | 2014-11-19 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000193446 | SCV000257870 | uncertain significance | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485295 | SCV002794439 | 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 | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137777 | SCV003820266 | uncertain significance | not provided | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165439 | SCV003860977 | uncertain significance | Cardiovascular phenotype | 2022-12-09 | criteria provided, single submitter | clinical testing | The c.60424_60426delGAA variant (also known as p.E20142del) is located in coding exon 155 of the TTN gene. This variant results from an in-frame GAA deletion at nucleotide positions 60424 to 60426. This results in the in-frame deletion of a glutamic acid at codon 20142. This amino acid position is highly 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. |