ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.10853_10856del (p.Glu3618fs)

dbSNP: rs1353723750
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559993 SCV000624196 pathogenic Primary ciliary dyskinesia 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu3618Alafs*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 present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 454727). For these reasons, this variant has been classified as Pathogenic.

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