Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001046104 | SCV001209992 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2023-05-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser669Leufs*8) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 843467). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. This variant is not present in population databases (gnomAD no frequency). |