Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000622190 | SCV000737154 | uncertain significance | Cardiovascular phenotype | 2016-09-01 | criteria provided, single submitter | clinical testing | The p.E2683K variant (also known as c.8047G>A), located in coding exon 33 of the TTN gene, results from a G to A substitution at nucleotide position 8047. This alteration is located in the I-band region of the N2-B isoform of the titin protein. The glutamic acid at codon 2683 is replaced by lysine, an amino acid with similar properties. Based on data from ExAC, the A allele has an overall frequency of less than 0.01% (1/121322). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002506499 | SCV002817041 | 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 | 2021-10-14 | criteria provided, single submitter | clinical testing |