Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152519 | SCV000201706 | likely benign | not specified | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.Lys762_Ala763del variant in TTN is classified as likely benign because it has been identified in 0.058% (18/30614) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1. |
Eurofins Ntd Llc |
RCV000725247 | SCV000335260 | uncertain significance | not provided | 2015-09-11 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000791209 | SCV000930491 | uncertain significance | TTN-Related Disorders | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725247 | SCV001784546 | likely benign | not provided | 2019-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162620 | SCV003860963 | uncertain significance | Cardiovascular phenotype | 2022-12-27 | criteria provided, single submitter | clinical testing | The c.2145_2150delTAAAGC variant (also known as p.K716_A717del) is located in coding exon 12 of the TTN gene. This variant results from an in-frame TAAAGC deletion at nucleotide positions 2145 to 2150. This results in the in-frame deletion of a at codon 716. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |