Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556002 | SCV004300125 | pathogenic | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys499*) in the CHM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHM are known to be pathogenic (PMID: 9067750, 23811034). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with choroideraemia (PMID: 8477262). ClinVar contains an entry for this variant (Variation ID: 11153). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000011903 | SCV000032136 | pathogenic | Choroideremia | 1993-01-01 | no assertion criteria provided | literature only |