Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548488 | SCV000643473 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002460087 | SCV002618024 | uncertain significance | Cardiovascular phenotype | 2020-02-26 | criteria provided, single submitter | clinical testing | The p.I11540M variant (also known as c.34620A>G), located in coding exon 131 of the TTN gene, results from an A to G substitution at nucleotide position 34620. The isoleucine at codon 11540 is replaced by methionine, 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. |