ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) (rs201943194)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726312 SCV000343671 pathogenic not provided 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000461399 SCV000551752 pathogenic Primary ciliary dyskinesia 2020-10-19 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. This variant is present in population databases (rs201943194, ExAC 0.02%). This variant has been observed in combination with another DNAH11 variant in a family affected with primary ciliary dyskinesia (PMID: 26729821). ClinVar contains an entry for this variant (Variation ID: 289324). Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Network,NIH RCV000289819 SCV000622140 pathogenic Ciliary dyskinesia, primary, 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 likely pathogenic not provided 2018-10-17 criteria provided, single submitter clinical testing The R2243X variant in the DNAH11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2243X variant is observed in 24/276,124 (0.0087%) global alleles in large population cohorts (Lek et al., 2016). We interpret R2243X as a likely pathogenic variant.

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