Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000546471 | SCV000643899 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002367866 | SCV002659281 | uncertain significance | Cardiovascular phenotype | 2018-11-07 | criteria provided, single submitter | clinical testing | The p.T21699K variant (also known as c.65096C>A), located in coding exon 166 of the TTN gene, results from a C to A substitution at nucleotide position 65096. The threonine at codon 21699 is replaced by lysine, an amino acid with similar properties. This variant was reported (as NM_133378.4:c.84587C>A p.T28196K) in a sudden infant death case with additional cardiac variants; however, clinical details were limited (Campuzano O et al. Forensic Sci Int Genet, 2018 Nov;37:54-63). This amino acid position is not 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. |
| Fulgent Genetics, |
RCV002491053 | SCV002781062 | 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 |