Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203755 | SCV000261685 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-11-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln71*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 30373780, Invitae). ClinVar contains an entry for this variant (Variation ID: 220821). Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic. |