Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152389 | SCV000201361 | uncertain significance | not specified | 2014-03-12 | criteria provided, single submitter | clinical testing | The Cys7982Arg variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/3775 African American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs372820178). The affected amino acid is conserved in evolution, suggesting th at a change would not be tolerated. Other computational analyses do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Cys7982Arg variant. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000152389 | SCV001360732 | uncertain significance | not specified | 2019-12-16 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.23944T>C (p.Cys7982Arg) results in a non-conservative amino acid change located in the I-band of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 248562 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.23944T>C 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. |
Gene |
RCV001564094 | SCV001787198 | likely benign | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing |