Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Laboratory, |
RCV001256188 | SCV001423821 | pathogenic | Autosomal recessive axonal neuropathy with neuromyotonia | criteria provided, single submitter | research | A homozygous missense variant of c.355C>T (p.His119Trp) was identified in the HINT1 gene in a patient affected with axonal neuropathy with neuromyotonia, which was confirmed as having been transmitted from the parents. The p.His119 site is highly conserved during evolution. The SIFT, Polyphen-2 and Provean softwares predict that the variant is damaging. |