Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529415 | SCV000642770 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413547 | SCV002710541 | uncertain significance | Cardiovascular phenotype | 2018-12-03 | criteria provided, single submitter | clinical testing | The p.A609D variant (also known as c.1826C>A), located in coding exon 11 of the TTN gene, results from a C to A substitution at nucleotide position 1826. The alanine at codon 609 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is well 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. |