ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del) (rs727502975)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150472 SCV000197658 likely pathogenic Primary ciliary dyskinesia 2014-03-14 criteria provided, single submitter clinical testing The Trp2490_Leu2496del variant in DNAH5 leads to an in-frame deletion of 7 amino acids. This variant has been reported together with a second DNAH5 variant (Met 2083Ile) in one individual with PCD and situs inversus (Berg 2011). In addition, this variant has been identified in trans configuration with a disease-causing variant in one affected proband (LMM unpublished data). Data from large populati on studies is insufficient to determine whether this variant is present in the g eneral population. In summary, this variant is likely pathogenic, though additio nal studies are required to fully establish its clinical significance.

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