Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172317 | SCV000054989 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000172317 | SCV000701233 | uncertain significance | not provided | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426822 | SCV002740424 | uncertain significance | Cardiovascular phenotype | 2020-02-28 | criteria provided, single submitter | clinical testing | The p.D8278V variant (also known as c.24833A>T), located in coding exon 100 of the TTN gene, results from an A to T substitution at nucleotide position 24833. The aspartic acid at codon 8278 is replaced by valine, 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. |