Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150159 | SCV000197049 | uncertain significance | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | The Asp86His variant in ANKRD1 has been identified by our laboratory in 1 South Indian infant with HCM and transposition of the great arteries. It was absent fr om large population studies. Computational prediction tools and conservation ana lysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical si gnificance of the Asp86His variant is uncertain. |
Invitae | RCV001417860 | SCV001620066 | likely benign | ANKRD1-related dilated cardiomyopathy | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453479 | SCV002738890 | likely benign | Cardiovascular phenotype | 2021-02-24 | 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. |