Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000248421 | SCV000320035 | uncertain significance | Cardiovascular phenotype | 2020-04-23 | criteria provided, single submitter | clinical testing | The p.N18511S variant (also known as c.55532A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 55532. The asparagine at codon 18511 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other 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. |
| Athena Diagnostics Inc | RCV003482248 | SCV004229403 | uncertain significance | not provided | 2022-10-18 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function. |