Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533200 | SCV000643941 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000623637 | SCV000740878 | uncertain significance | Inborn genetic diseases | 2015-08-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448715 | SCV002682433 | uncertain significance | Cardiovascular phenotype | 2020-05-11 | criteria provided, single submitter | clinical testing | The p.H3132L variant (also known as c.9395A>T), located in coding exon 39 of the TTN gene, results from an A to T substitution at nucleotide position 9395. The histidine at codon 3132 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well 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. |