Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000404071 | SCV000336274 | pathogenic | not provided | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Centre for Genomic and Experimental Medicine, |
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. |