ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) (rs1190944498)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229823 SCV001402280 uncertain significance Primary ciliary dyskinesia 2020-01-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1899 of the DNAH11 protein (p.Lys1899Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNAH11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001545154 SCV001764428 uncertain significance not provided 2021-01-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Klinikum rechts der Isar RCV000995535 SCV001149759 likely pathogenic Ciliary dyskinesia, primary, 7 2020-01-16 no assertion criteria provided clinical testing

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