Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000828216 | SCV000969900 | likely benign | not provided | 2018-06-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Mayo Clinic Laboratories, |
RCV000828216 | SCV002541928 | uncertain significance | not provided | 2021-10-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002352481 | SCV002651905 | likely benign | Cardiovascular phenotype | 2020-05-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469303 | SCV002766499 | uncertain significance | not specified | 2022-11-14 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.77242G>C (p.Glu25748Gln) results in a conservative amino acid change located in the A-band region of the encoded protein sequence. Two of four 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 248056 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.77242G>C has been reported in the literature in a sudden unexpected death case (Scheiper_2018). This report does not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as likely benign and as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Revvity Omics, |
RCV000828216 | SCV003824883 | uncertain significance | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing |