Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001042897 | SCV001206605 | uncertain significance | Autosomal recessive axonal neuropathy with neuromyotonia | 2022-07-12 | 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 840807). 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 replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 50 of the HINT1 protein (p.Thr50Pro). |
| Ambry Genetics | RCV002393213 | SCV002700882 | uncertain significance | Inborn genetic diseases | 2020-01-13 | criteria provided, single submitter | clinical testing | The p.T50P variant (also known as c.148A>C), located in coding exon 2 of the HINT1 gene, results from an A to C substitution at nucleotide position 148. The threonine at codon 50 is replaced by proline, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |