Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040585 | SCV000064276 | uncertain significance | not specified | 2012-03-22 | criteria provided, single submitter | clinical testing | The Thr2160Ala variant (TTN) has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for o r against an impact to the protein. However, zebrafish carries the mutant amino acid alanine (Ala) at this position, raising doubt as to whether this change can cause disease. Furthermore, the TTN gene is strongly associated with DCM based on the high prevalence of loss-of-function variants (Herman 2012), but the role of missense variants is unclear. In summary, additional information is needed t o fully assess the clinical significance of the Thr2160Ala variant. |
Invitae | RCV000539387 | SCV000643518 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727443 | SCV000708561 | uncertain significance | not provided | 2017-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727443 | SCV001791630 | likely benign | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362634 | SCV002659519 | likely benign | Cardiovascular phenotype | 2020-06-09 | 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. |