Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702693 | SCV000831556 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2018-05-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1199*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761972717, ExAC 0.01%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV001027478 | SCV001190049 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | research |