Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003596596 | SCV000950322 | pathogenic | Ichthyosis linearis circumflexa | 2018-08-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SPINK5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr125Asnfs*21) in the SPINK5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPINK5 are known to be pathogenic (PMID: 11511292, 11841556). For these reasons, this variant has been classified as Pathogenic. |