ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) (rs769054713)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168445 SCV000219142 pathogenic Primary ciliary dyskinesia 2017-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 3000 (p.Arg3000*). It is expected to result in an absent or disrupted protein product. Truncating variants in DNAH5 are known to be pathogenic. This particular truncation has been reported in an individual with primary ciliary dyskinesia (PMID: 22416021). ClinVar contains an entry for this variant (Variation ID: 188388). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000168445 SCV001452274 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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