Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000253832 | SCV000318771 | uncertain significance | Cardiovascular phenotype | 2015-10-20 | criteria provided, single submitter | clinical testing | The p.Q23310R variant (also known as c.69929A>G), located in coding exon 274 of the TTN gene, results from an A to G substitution at nucleotide position 69929. The glutamine at codon 23310 is replaced by arginine, an amino acid with some highly 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 6078 samples (12156 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species, and arginineis the reference amino acid in one 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 variant remains unclear. |