Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ITMI | RCV000454339 | SCV000538080 | likely pathogenic | Complement component 9 deficiency | 2017-02-28 | criteria provided, single submitter | research | |
Invitae | RCV003766471 | SCV004695435 | pathogenic | not provided | 2023-09-19 | 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: 402245). This sequence change creates a premature translational stop signal (p.Tyr193Thrfs*10) in the C9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C9 are known to be pathogenic (PMID: 9144525, 9570574). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of C9 deficiency (PMID: 28617419). |