Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226138 | SCV000287019 | pathogenic | Primary ciliary dyskinesia | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val2382Serfs*9) 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 (rs768452027, gnomAD 0.03%). 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: 238930). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000226138 | SCV002665497 | pathogenic | Primary ciliary dyskinesia | 2019-05-09 | criteria provided, single submitter | clinical testing | The c.7140_7141delAT variant, located in coding exon 44 of the DNAH11 gene, results from a deletion of two nucleotides at nucleotide positions 7140 to 7141, causing a translational frameshift with a predicted alternate stop codon (p.V2382Sfs*9). 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. |
Prevention |
RCV003907863 | SCV004719306 | likely pathogenic | DNAH11-related condition | 2024-01-12 | criteria provided, single submitter | clinical testing | The DNAH11 c.7140_7141delAT variant is predicted to result in a frameshift and premature protein termination (p.Val2382Serfs*9). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.030% of alleles in individuals of African descent in gnomAD. Frameshift variants in DNAH11 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |