ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.7866G>A (p.Trp2622Ter)

dbSNP: rs766256391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461675 SCV000546396 pathogenic Primary ciliary dyskinesia 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 407300). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. This variant is present in population databases (rs766256391, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Trp2622*) in the DNAH8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH8 are known to be pathogenic (PMID: 24307375, 32619401, 32681648).

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