ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11140A>G (p.Ile3714Val) (rs143185806)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667283 SCV000791709 uncertain significance Ciliary dyskinesia, primary, 3 2017-05-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732319 SCV000860254 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000798835 SCV000938470 uncertain significance Primary ciliary dyskinesia 2019-09-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 3714 of the DNAH5 protein (p.Ile3714Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs143185806, ExAC 0.2%). This variant has been reported in an individual affected with primary ciliary dyskinesia (PMID: 22499950). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000798835 SCV001462482 uncertain significance Primary ciliary dyskinesia 2020-01-02 no assertion criteria provided clinical testing

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