Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729421 | SCV000857081 | uncertain significance | not provided | 2017-09-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386292 | SCV002670462 | uncertain significance | Cardiovascular phenotype | 2019-10-11 | criteria provided, single submitter | clinical testing | The p.R2460Q variant (also known as c.7379G>A), located in coding exon 30 of the TTN gene, results from a G to A substitution at nucleotide position 7379. The arginine at codon 2460 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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, |
RCV002493315 | SCV002778930 | 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 | 2021-12-13 | criteria provided, single submitter | clinical testing |