Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192446 | SCV001360573 | uncertain significance | not specified | 2019-09-23 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.37133_37141delGACCACTCA (p.Arg12378_Leu12380del) results in an in-frame deletion that is predicted to remove 3 amino acids from the I-band region of the encoded protein. The variant was absent in 237744 control chromosomes. 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.37133_37141delGACCACTCA in individuals affected with 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. |
| Ambry Genetics | RCV004994314 | SCV005521635 | uncertain significance | Cardiovascular phenotype | 2024-10-17 | criteria provided, single submitter | clinical testing | The c.17642_17650delGACCACTCA variant (also known as p.R5881_L5883del) is located in coding exon 70 of the TTN gene. This variant results from an in-frame GACCACTCA deletion at nucleotide positions 17642 to 17650. This results in the in-frame deletion of 3 amino acids (RPL) at codons 5881 to 5883. These amino acid position are 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). Based on the available evidence, the clinical significance of this variant remains unclear. |