Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172418 | SCV000055078 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000172418 | SCV000721163 | uncertain significance | not provided | 2019-10-28 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 23861362) |
Ambry Genetics | RCV002321685 | SCV002628035 | uncertain significance | Cardiovascular phenotype | 2018-05-29 | criteria provided, single submitter | clinical testing | The p.Q3885P variant (also known as c.11654A>C), located in coding exon 44 of the TTN gene, results from an A to C substitution at nucleotide position 11654. The glutamine at codon 3885 is replaced by proline, an amino acid with similar properties. This alteration has been reported as a secondary cardiac variant (described as NM_133378.4:c.10361-2130A>C) in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is well 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. |