Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001293605 | SCV001482222 | uncertain significance | not specified | 2021-02-02 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.7975C>G (p.Leu2659Val) results in a conservative amino acid change located in the I-band region (cardiodb.org) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 251292 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.7975C>G 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 |
RCV001545864 | SCV001765276 | likely benign | not provided | 2019-03-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002411934 | SCV002669270 | likely benign | Cardiovascular phenotype | 2020-06-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |