Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214398 | SCV000272697 | uncertain significance | not specified | 2015-03-21 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Asp16532Glu v ariant in TTN has not been previously reported in individuals with cardiomyopath y or in large population studies. Asparagine (Asp) is not conserved in evolution arily distant species and the change to glutamine (Glu) is present in >10 fish s pecies, raising the possibility that this change may be tolerated. Additional co mputational prediction tools suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Asp16532Glu variant is uncer tain, the presence of the variant amino acid in multiple other species suggests that it is more likely to be benign. |
Ambry Genetics | RCV002433938 | SCV002754219 | uncertain significance | Cardiovascular phenotype | 2019-01-17 | criteria provided, single submitter | clinical testing | The p.D10035E variant (also known as c.30105T>G), located in coding exon 121 of the TTN gene, results from a T to G substitution at nucleotide position 30105. The aspartic acid at codon 10035 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamic acid is the reference amino acid in other 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, |
RCV002485402 | SCV002788372 | 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 | 2021-10-18 | criteria provided, single submitter | clinical testing |