ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.4605dup (p.Ile1536fs)

dbSNP: rs864622512
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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 RCV000205189 SCV000260910 pathogenic Primary ciliary dyskinesia 2023-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1536Tyrfs*10) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of primary ciliary dyskinesia (Invitae). ClinVar contains an entry for this variant (Variation ID: 220401). For these reasons, this variant has been classified as Pathogenic.

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