ClinVar Miner

Submissions for variant NM_001737.5(C9):c.577del (p.Tyr193fs)

gnomAD frequency: 0.00001  dbSNP: rs778518669
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Total submissions: 2
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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).

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