Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000244360 | SCV000319831 | uncertain significance | Cardiovascular phenotype | 2015-06-29 | criteria provided, single submitter | clinical testing | The p.Q14769P variant (also known as c.44306A>C), located in coding exon 153 of the TTN gene, results from an A to C substitution at nucleotide position 44306. The glutamine at codon 14769 is replaced by proline, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6054 samples (12108 alleles) with coverage at this position. In ExAC, this variant was seen in 1/120206 samples.This amino acid position is well conserved across mammals, but not well conserved across all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence for this variant is limited at this time, its clinical significance is unclear. |
| Mayo Clinic Laboratories, |
RCV001508109 | SCV001714039 | uncertain significance | not provided | 2021-01-04 | criteria provided, single submitter | clinical testing |