Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654643 | SCV000776538 | uncertain significance | Autosomal recessive axonal neuropathy with neuromyotonia | 2022-02-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 543793). This variant has not been reported in the literature in individuals affected with HINT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects codon 81 of the HINT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HINT1 protein. |