Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001779449 | SCV002014840 | uncertain significance | not specified | 2021-10-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002359253 | SCV002660397 | uncertain significance | Cardiovascular phenotype | 2018-06-13 | criteria provided, single submitter | clinical testing | The p.E20553K variant (also known as c.61657G>A), located in coding exon 159 of the TTN gene, results from a G to A substitution at nucleotide position 61657. The glutamic acid at codon 20553 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly 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. |
Fulgent Genetics, |
RCV002506820 | SCV002817012 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-09-23 | criteria provided, single submitter | clinical testing |