Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001328437 | SCV001519566 | uncertain significance | not specified | 2021-03-15 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.83909_83911delTTA (p.Ile27970del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 2.4e-05 in 248394 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.83909_83911delTTA in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Gene |
RCV001577446 | SCV001804823 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368109 | SCV002656786 | uncertain significance | Cardiovascular phenotype | 2022-02-11 | criteria provided, single submitter | clinical testing | The c.64418_64420delTTA variant (also known as p.I21473del) is located in coding exon 164 of the TTN gene. This variant results from an in-frame TTA deletion at nucleotide positions 64418 to 64420. This results in the in-frame deletion of an isoleucine at codon 21473. This amino acid position is not 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. |
Clinical Genetics, |
RCV001577446 | SCV001918681 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001577446 | SCV001952797 | uncertain significance | not provided | no assertion criteria provided | clinical testing |