Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554200 | SCV000643350 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620805 | SCV000737265 | uncertain significance | Cardiovascular phenotype | 2017-06-16 | criteria provided, single submitter | clinical testing | The p.R8903P variant (also known as c.26708G>C), located in coding exon 107 of the TTN gene, results from a G to C substitution at nucleotide position 26708. The arginine at codon 8903 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |