Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459876 | SCV000546470 | likely benign | Hypertrophic cardiomyopathy | 2022-03-28 | criteria provided, single submitter | clinical testing | |
Petrovsky National Research Centre of Surgery, |
RCV001263426 | SCV001441289 | uncertain significance | Left ventricular noncompaction; Hypertrophic cardiomyopathy | 2020-10-15 | criteria provided, single submitter | clinical testing | We observed a c.2217G>A (p.E739K) genetic variant in a 39-y.o. female patient with left ventricular non-compaction and myocardium hypertrophy. Additionally, in a proband we observed the genetic variant p.Q1233*, also in MYBPC3 gene. Both genetic variants were in a heterozygous state. The p.E739K genetic variant was classified as probably pathogenic by various online resources. However, in the absence of family screening results and functional studies, the genetic variant p.E739K could be classified as the variant of unknown clinical significance only. |