ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) (rs571919972)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233866 SCV000287050 pathogenic Primary ciliary dyskinesia 2020-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3462*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs571919972, ExAC 0.007%). This variant has been reported in individuals affected with primary ciliary dyskinesia (PMID: 22416021, 23891469, 24498942). ClinVar contains an entry for this variant (Variation ID: 238953). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000679863 SCV000807229 pathogenic Ciliary dyskinesia, primary, 3 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with another missense variant in a 14-year-old female with chronic lung disease, AV malformations, chylopericardium and pulmonary lymphangiectasia, skin nevi, absent puberty.
Natera, Inc. RCV000233866 SCV001452265 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572953 SCV001798094 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001572953 SCV001807072 pathogenic not provided no assertion criteria provided clinical testing

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