Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223054 | SCV001395186 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-07-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr943*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80338932, ExAC 0.002%). This variant has been observed to segregate with autosomal recessive Charcot-Marie-Tooth disease in a family (PMID: 14574644). ClinVar contains an entry for this variant (Variation ID: 2481). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000002585 | SCV000022743 | pathogenic | Charcot-Marie-Tooth disease, type 4C | 2003-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000002585 | SCV000041491 | pathologic | Charcot-Marie-Tooth disease, type 4C | 2008-03-31 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |