Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592417 | SCV000707860 | uncertain significance | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592417 | SCV002504530 | likely benign | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002420578 | SCV002729074 | uncertain significance | Cardiovascular phenotype | 2020-03-18 | criteria provided, single submitter | clinical testing | The p.I7126V variant (also known as c.21376A>G), located in coding exon 86 of the TTN gene, results from an A to G substitution at nucleotide position 21376. The isoleucine at codon 7126 is replaced by valine, an amino acid with highly 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. |