Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000714087 | SCV000701787 | uncertain significance | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618453 | SCV000737215 | uncertain significance | Cardiovascular phenotype | 2018-08-29 | criteria provided, single submitter | clinical testing | The p.P15160L variant (also known as c.45479C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 45479. The proline at codon 15160 is replaced by leucine, an amino acid with similar properties. This alteration has been previously reported in a sudden unexpected death cohort in a patient who also carried variants in other cardiac-related genes (Suktitipat B et al. PLoS ONE. 2017;12:e0180056). 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. |
Invitae | RCV000643696 | SCV000765383 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714087 | SCV000844754 | uncertain significance | not provided | 2018-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000714087 | SCV001764346 | likely benign | not provided | 2021-09-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17344846, 28704380) |
Revvity Omics, |
RCV000714087 | SCV003818444 | uncertain significance | not provided | 2023-06-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000714087 | SCV001808294 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000714087 | SCV001919478 | uncertain significance | not provided | no assertion criteria provided | clinical testing |