Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000183525 | SCV000235988 | uncertain significance | not provided | 2016-08-18 | criteria provided, single submitter | clinical testing | The c.322-1 G>A variant has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This variant destroys the canonical splice acceptor site in intron 3 and is predicted to cause abnormal gene splicing. However, no mutations associated with haploinsuffiency have been reported in the LDB3 gene in HGMD in association with cardiomyopathy (Stenson P et al., 2009). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. |