ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)

gnomAD frequency: 0.00008  dbSNP: rs201943194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726312 SCV000343671 pathogenic not provided 2016-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461399 SCV000551752 pathogenic Primary ciliary dyskinesia 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2243*) 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 (rs201943194, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 26729821, 31607746). ClinVar contains an entry for this variant (Variation ID: 289324). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Network, NIH RCV000289819 SCV000622140 pathogenic Primary ciliary dyskinesia 7 2016-05-14 criteria provided, single submitter clinical testing For this patient, the lab reported the c.6727C>T (p.R2243X) variant as pathogenic and the c.2966G>A (p.R989Q) as a VUS. Sent a nasal biopsy for ciliary beat frequency analysis and results came back inconclusive, but beating pattern was analgous to other DNAH11 mutation beating patterns.
GeneDx RCV000726312 SCV000890648 pathogenic not provided 2021-11-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33715250, 31607746, 26729821, 31589614)

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