ClinVar Miner

Submissions for variant NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)

gnomAD frequency: 0.00002  dbSNP: rs267607225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556400 SCV000624531 pathogenic Primary ciliary dyskinesia 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 264). This premature translational stop signal has been observed in individual(s) with primary ciliary dyskinesia (PMID: 19944400). This variant is present in population databases (rs267607225, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg271*) in the DNAAF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAAF1 are known to be pathogenic (PMID: 19944400, 19944405).
OMIM RCV000000288 SCV000020432 pathogenic Primary ciliary dyskinesia 13 2009-12-01 no assertion criteria provided literature only
GeneReviews RCV000000288 SCV000087265 pathologic Primary ciliary dyskinesia 13 2011-09-15 no assertion criteria provided curation Converted during submission to Pathogenic.

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