ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9623_9624del (p.Ile3208fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005217511 SCV005857991 pathogenic Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile3208Serfs*27) in the DNAH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH1 are known to be pathogenic (PMID: 27573432, 27798045). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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