Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000548620 | SCV000643905 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619827 | SCV000735862 | uncertain significance | Cardiovascular phenotype | 2017-06-02 | criteria provided, single submitter | clinical testing | The p.R21965Q variant (also known as c.65894G>A), located in coding exon 166 of the TTN gene, results from a G to A substitution at nucleotide position 65894. The arginine at codon 21965 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. |