Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045497 | SCV001209352 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-11-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1196*) in the SBF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 12687498). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2911). Loss-of-function variants in SBF2 are known to be pathogenic (PMID: 25873783, 12687498). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000003045 | SCV000023203 | pathogenic | Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma | 2003-05-01 | no assertion criteria provided | literature only |