Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000735823 | SCV000863538 | uncertain significance | Ethylmalonic encephalopathy | 2018-03-15 | no assertion criteria provided | clinical testing | The observed variant NM_014297.5: c.417T>G(p.Cys139Trp) in exon-4 of ETHE1 gene has not been reported in the 1000 Genomes and ExAC databases. The in-silico prediction of variant is probably damaging by Polyphen-2 and damaging by SIFT, LRT and MutationTaster2. |