Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699843 | SCV000828572 | pathogenic | Primary ciliary dyskinesia | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1182*) 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 (rs374107286, gnomAD 0.007%). 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: 577162). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000699843 | SCV002617297 | pathogenic | Primary ciliary dyskinesia | 2018-04-20 | criteria provided, single submitter | clinical testing | The p.R1182* pathogenic mutation (also known as c.3544C>T), located in coding exon 18 of the DNAH11 gene, results from a C to T substitution at nucleotide position 3544. This changes the amino acid from an arginine to a stop codon within coding exon 18. This mutation was identified in an individual with primary ciliary dyskinesia in conjunction with a second DNAH11 alteration (Shoemark A et al. Eur. Respir. J., 2018 Feb;51(2)). In addition to the clinical data presented in the literature, 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. |
Fulgent Genetics, |
RCV002477602 | SCV002779884 | pathogenic | Primary ciliary dyskinesia 7 | 2022-04-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892557 | SCV004711906 | pathogenic | DNAH11-related condition | 2023-11-21 | criteria provided, single submitter | clinical testing | The DNAH11 c.3544C>T variant is predicted to result in premature protein termination (p.Arg1182*). This variant has been reported along with a second DNAH11 variant in an individual with primary ciliary dyskinesia (Shoemark et al 2018. PubMed ID: 29467202). This variant is reported in 0.0056% of alleles in individuals of East Asian descent in gnomAD. Nonsense variants in DNAH11 are expected to be pathogenic. This variant is interpreted as pathogenic. |