Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512660 | SCV003440645 | pathogenic | not provided | 2023-06-10 | 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: 1740). This premature translational stop signal has been observed in individual(s) with ESCO2-related conditions (PMID: 16380922). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln202*) in the ESCO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ESCO2 are known to be pathogenic (PMID: 15821733, 16380922). |
OMIM | RCV000001810 | SCV000021966 | pathogenic | Roberts-SC phocomelia syndrome | 2005-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000001810 | SCV000040806 | not provided | Roberts-SC phocomelia syndrome | no assertion provided | literature only |