Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172463 | SCV000055102 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000172463 | SCV000859441 | uncertain significance | not provided | 2018-01-30 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000172463 | SCV000928192 | likely pathogenic | not provided | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165358 | SCV003858712 | uncertain significance | Cardiovascular phenotype | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.6919+2dupT intronic variant is located 2 nucleotides after coding exon 28 of the TTN gene. This variant results from a duplication of one nucleotide at nucleotide position c.6919+2. This alteration (referred to as NM_133378.4:c.7057+2dup) has been reported as a secondary cardiac variant in an exome cohort; however, clinical details are limited (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |