Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000459102 | SCV000542663 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402233 | SCV002704639 | uncertain significance | Cardiovascular phenotype | 2020-02-26 | criteria provided, single submitter | clinical testing | The p.D5496Y variant (also known as c.16486G>T), located in coding exon 63 of the TTN gene, results from a G to T substitution at nucleotide position 16486. The aspartic acid at codon 5496 is replaced by tyrosine, an amino acid with highly dissimilar properties. 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. |