ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)

gnomAD frequency: 0.00001  dbSNP: rs778698443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251124 SCV001426494 likely pathogenic Primary ciliary dyskinesia 7 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001251124 SCV002021707 pathogenic Primary ciliary dyskinesia 7 2020-02-27 criteria provided, single submitter clinical testing
Invitae RCV003652115 SCV004475715 pathogenic Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2189*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This variant is present in population databases (rs778698443, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 31879361). ClinVar contains an entry for this variant (Variation ID: 974843). For these reasons, this variant has been classified as Pathogenic.

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