Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002966485 | SCV003281132 | pathogenic | Cutis laxa, autosomal recessive, type 1B | 2023-11-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys287Leufs*2) in the EFEMP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EFEMP2 are known to be pathogenic (PMID: 17937443). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2067512). For these reasons, this variant has been classified as Pathogenic. |