ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.9540del (p.Phe3181fs)

dbSNP: rs2126785787
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384025 SCV001583388 pathogenic Primary ciliary dyskinesia 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe3181Leufs*23) 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 variant has not been reported in the literature in individuals affected with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1071536). For these reasons, this variant has been classified as Pathogenic.

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