Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003596622 | SCV000963787 | pathogenic | Ichthyosis linearis circumflexa | 2023-04-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys860Serfs*64) 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. ClinVar contains an entry for this variant (Variation ID: 664791). This premature translational stop signal has been observed in individual(s) with Netherton syndrome (PMID: 11511292, 16628198). This variant is not present in population databases (gnomAD no frequency). |