Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000807076 | SCV000947108 | pathogenic | Primary ciliary dyskinesia | 2023-11-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr4414Asnfs*34) in the DNAH11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the DNAH11 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 29467202). ClinVar contains an entry for this variant (Variation ID: 651667). This variant disrupts a region of the DNAH11 protein in which other variant(s) (p.Ser4498Argfs*15, p.Trp4505Serfs*10) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000807076 | SCV002689063 | pathogenic | Primary ciliary dyskinesia | 2015-09-08 | criteria provided, single submitter | clinical testing | The c.13240dupA pathogenic mutation, located in coding exon 81 of the DNAH11 gene, results from a duplication of A at nucleotide position 13240, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |