Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643728 | SCV000765415 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369700 | SCV002625091 | uncertain significance | Cardiovascular phenotype | 2020-09-21 | criteria provided, single submitter | clinical testing | The p.D13249Y variant (also known as c.39745G>T), located in coding exon 144 of the TTN gene, results from a G to T substitution at nucleotide position 39745. The aspartic acid at codon 13249 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and tyrosine is the reference amino acid in other 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. |