Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Genetic Medicine, |
RCV000660862 | SCV000778867 | likely pathogenic | Autosomal dominant Charcot-Marie-Tooth disease type 2W | 2018-07-03 | criteria provided, single submitter | clinical testing | The c.397G>T (p.Val133Phe) variant in HARS has never been described in any public databases. It is predicted to be deleterious by various in-silico software as CADD, VEST3, MutationTaster, SIFT. It affects the 1st base of exon 5 and is predicted to lead to an incorrect exon splicing. This variant is surrounded by known pathogenic variants causing AD CMT (Safka Brozkova, 2015). |