Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003763906 | SCV001405480 | pathogenic | Ichthyosis linearis circumflexa | 2019-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPINK5 are known to be pathogenic (PMID: 11511292, 11841556). This variant has not been reported in the literature in individuals with SPINK5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg871*) in the SPINK5 gene. It is expected to result in an absent or disrupted protein product. |