Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000128744 | SCV003523207 | pathogenic | not provided | 2022-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30584). This premature translational stop signal has been observed in individual(s) with restrictive dermopathy (PMID: 16297189, 24169522). This variant is present in population databases (rs762551336, gnomAD 0.05%). This sequence change creates a premature translational stop signal (p.Ile19Tyrfs*28) in the ZMPSTE24 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZMPSTE24 are known to be pathogenic (PMID: 22718200, 24169522). |
OMIM | RCV000023548 | SCV000044839 | pathogenic | Lethal tight skin contracture syndrome | 2012-10-05 | no assertion criteria provided | literature only | |
ZMPSTE24 homepage - |
RCV000128744 | SCV000172384 | not provided | not provided | no assertion provided | not provided |