Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760638 | SCV000890530 | likely pathogenic | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | The R4403X variant in the SYNE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R4403X variant is observed in 2/17246 (0.0116%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret R4403X as a likely pathogenic variant. |