ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)

gnomAD frequency: 0.00001  dbSNP: rs374107286
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Total submissions: 4
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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, Fulgent Genetics RCV002477602 SCV002779884 pathogenic Primary ciliary dyskinesia 7 2022-04-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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.

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