ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) (rs745918507)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549276 SCV000624281 pathogenic Primary ciliary dyskinesia 2019-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2255*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745918507, ExAC 0.01%). This variant has been observed in an individual with suspected primary ciliary dyskinesia (PMID: 27637300). ClinVar contains an entry for this variant (Variation ID: 454795). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000670288 SCV000795122 likely pathogenic Ciliary dyskinesia, primary, 3 2017-10-27 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill RCV000549276 SCV001431619 likely pathogenic Primary ciliary dyskinesia 2017-05-05 criteria provided, single submitter clinical testing
MAGI's Lab - Research,MAGI Group RCV001327941 SCV001432719 pathogenic Infertility no assertion criteria provided provider interpretation

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