ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) (rs200669099)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763195 SCV000893808 pathogenic Kartagener syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000763195 SCV000916256 likely pathogenic Kartagener syndrome 2018-10-31 criteria provided, single submitter clinical testing The DNAI1 c.1644G>A (p.Trp548Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Trp548Ter variant has been reported in a compound heterozygous state in two patients with neonatal respiratory distress and sinusitis as well as outer dynein arm defect on electron microscopy (Zariwala et al. 2006; Berg et al. 2011). Family studies for one patient found the p.Trp548Ter variant was inherited from the healthy father. The variant was absent from 113 control subjects and is reported at a frequency of 0.000071 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the evidence in the literature and the potential impact of stop-gained variants, the p.Trp548Ter variant is classified as likely pathogenic for primary ciliary dyskinesia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000231603 SCV000289874 pathogenic Primary ciliary dyskinesia 2018-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp548*) in the DNAI1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200669099, ExAC 0.006%). This variant has been observed in  in individuals affected with primary ciliary dyskinesia (PMID: 16858015, 21270641). ClinVar contains an entry for this variant (Variation ID: 240854). Loss-of-function variants in DNAI1 are known to be pathogenic (PMID: 16858015). For these reasons, this variant has been classified as Pathogenic.

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