ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter) (rs771663107)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814567 SCV000954980 pathogenic Primary ciliary dyskinesia 2020-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1450*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs771663107, ExAC 0.005%). This variant has been reported in many individuals with primary ciliary dyskinesia, 10 of whom were homozygous for this variant (PMID: 19357118, 23477994). ClinVar contains an entry for this variant (Variation ID: 208992). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000190910 SCV000245796 pathogenic Kartagener syndrome 2015-09-03 no assertion criteria provided literature only
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477807 SCV000536766 pathogenic Ciliary dyskinesia, primary, 3 2016-04-27 no assertion criteria provided research

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