Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553453 | SCV000657906 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2017-03-01 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides from exon 11 of the SH3TC2 mRNA (c.1868_1869delGG), causing a frameshift at codon 623. This creates a premature translational stop signal (p.Gly623Aspfs*47) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 14574644). For these reasons, this variant has been classified as Pathogenic. |