Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643436 | SCV000765123 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331183 | SCV002629373 | uncertain significance | Cardiovascular phenotype | 2019-10-01 | criteria provided, single submitter | clinical testing | The p.Y13802H variant (also known as c.41404T>C), located in coding exon 150 of the TTN gene, results from a T to C substitution at nucleotide position 41404. The tyrosine at codon 13802 is replaced by histidine, an amino acid with 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. |