Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154932 | SCV000204614 | uncertain significance | not specified | 2015-11-25 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Ambry Genetics | RCV002345504 | SCV002621968 | uncertain significance | Cardiovascular phenotype | 2020-09-16 | criteria provided, single submitter | clinical testing | The p.G12496V variant (also known as c.37487G>T), located in coding exon 137 of the TTN gene, results from a G to T substitution at nucleotide position 37487. The glycine at codon 12496 is replaced by valine, an amino acid with dissimilar 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. |