Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593148 | SCV000709381 | uncertain significance | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852512 | SCV000995208 | uncertain significance | Hypertrophic cardiomyopathy | 2018-04-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456315 | SCV002616973 | uncertain significance | Cardiovascular phenotype | 2019-06-19 | criteria provided, single submitter | clinical testing | The p.K11329N variant (also known as c.33987G>C), located in coding exon 131 of the TTN gene, results from a G to C substitution at nucleotide position 33987. The lysine at codon 11329 is replaced by asparagine, an amino acid with similar 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. |
Prevention |
RCV003945449 | SCV004763559 | uncertain significance | TTN-related condition | 2024-01-11 | criteria provided, single submitter | clinical testing | The TTN c.61182G>C variant is predicted to result in the amino acid substitution p.Lys20394Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |