Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003764530 | SCV004569664 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-07-31 | 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: 5344). This variant is also known as 2456delG. This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 10700184). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met820Trpfs*108) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). |
OMIM | RCV000005673 | SCV000025855 | pathogenic | Ellis-van Creveld syndrome | 2000-03-01 | no assertion criteria provided | literature only |