ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs)

dbSNP: rs1562590250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706060 SCV000835090 pathogenic Primary ciliary dyskinesia 2023-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 582081). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile3764Alafs*32) 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).
GenomeConnect - Invitae Patient Insights Network RCV003483714 SCV004228607 not provided Primary ciliary dyskinesia 7 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 06-18-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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