ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382829 SCV001581770 pathogenic Primary ciliary dyskinesia 2014-08-04 criteria provided, single submitter clinical testing This sequence change is novel. It has not been reported as a common polymorphism (>1% frequency) in the general population, and has not been reported in case studies of affected individuals. This sequence change results in a frameshift at codon 1812 which leads to a premature translational stop signal at codon 1818. It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating mutations in DNAH5 are known to be pathogenic (PMID: 16627867). In summary, this sequence change is classified as Pathogenic because it is a novel truncating change in a gene with a known loss of function disease mechanism.

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