Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000734760 | SCV000237978 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32403337) |
Invitae | RCV000534043 | SCV000642615 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734760 | SCV000862928 | uncertain significance | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408824 | SCV002675540 | uncertain significance | Cardiovascular phenotype | 2019-02-12 | criteria provided, single submitter | clinical testing | The p.S26774R variant (also known as c.80322T>G), located in coding exon 189 of the TTN gene, results from a T to G substitution at nucleotide position 80322. The serine at codon 26774 is replaced by arginine, an amino acid with dissimilar properties. This variant (reported as p.S33271R, c.99813T>G) has been detected in an individual reported to have long QT syndrome without known structural heart disease; however, clinical details were limited (Mademont-Soler I et al. PLoS ONE, 2017 Aug;12:e0181465). 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. |
Mayo Clinic Laboratories, |
RCV000734760 | SCV004225009 | uncertain significance | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | BP4 |