Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152512 | SCV000201691 | likely benign | not specified | 2013-03-26 | criteria provided, single submitter | clinical testing | Val1193Met in exon 22 of TTN: This variant is not expected to have clinical sign ificance due to a lack of conservation across species. Of note, multiple mammals have a methionine (Met) at this position despite high nearby amino acid conserv ation. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not s uggest a high likelihood of impact to the protein. |
Gene |
RCV000833266 | SCV000975028 | likely benign | not provided | 2018-06-20 | 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. |
Ambry Genetics | RCV002453502 | SCV002615193 | likely benign | Cardiovascular phenotype | 2019-08-26 | 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. |