Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000691413 | SCV000819191 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | 2019-07-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 2097 of the DST protein (p.Thr2097Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs373440035, ExAC 0.009%). This variant has not been reported in the literature in individuals with DST-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Inherited Neuropathy Consortium | RCV001027494 | SCV001190069 | likely pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | provider interpretation |