ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)

dbSNP: rs886042735
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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) RCV000404071 SCV000336274 pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV001268927 SCV001334264 pathogenic Primary ciliary dyskinesia 2020-04-01 criteria provided, single submitter research
Invitae RCV001268927 SCV002187669 pathogenic Primary ciliary dyskinesia 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys3408Trpfs*54) 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 (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 283902). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001268927 SCV002680283 pathogenic Primary ciliary dyskinesia 2022-06-14 criteria provided, single submitter clinical testing The c.10221_10222delCT pathogenic mutation, located in coding exon 63 of the DNAH11 gene, results from a deletion of two nucleotides at nucleotide positions 10221 to 10222, causing a translational frameshift with a predicted alternate stop codon (p.C3408Wfs*54). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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