ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) (rs748618094)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203745 SCV000261230 pathogenic Primary ciliary dyskinesia 2015-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1853 (p.Lys1853*). 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 the literature in an individual affected with primary ciliary dyskinesia (PMID: 19357118) For these reasons, this variant has been classified as Pathogenic.
MAGI's Lab - Research,MAGI Group RCV001283735 SCV001432678 pathogenic Male infertility no assertion criteria provided provider interpretation
Natera, Inc. RCV000203745 SCV001457363 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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