Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234237 | SCV001406872 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg997Glyfs*18) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 637410). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV000789569 | SCV000928925 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |