Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000334199 | SCV000333122 | uncertain significance | not provided | 2015-07-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620666 | SCV000736678 | uncertain significance | Cardiovascular phenotype | 2016-09-26 | criteria provided, single submitter | clinical testing | The p.R7311H variant (also known as c.21932G>A), located in coding exon 89 of the TTN gene, results from a G to A substitution at nucleotide position 21932. The arginine at codon 7311 is replaced by histidine, an amino acid with highly similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. Based on data from ExAC, the A allele has an overall frequency less than 0.01% (1/104852). 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. |