ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8512A>C (p.Ser2838Arg) (rs763198301)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624726 SCV000741628 uncertain significance Inborn genetic diseases 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV000629297 SCV000750232 uncertain significance Primary ciliary dyskinesia 2019-06-25 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 2838 of the DNAH5 protein (p.Ser2838Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs763198301, ExAC 0.02%). This variant has not been reported in the literature in individuals with DNAH5-related disease. ClinVar contains an entry for this variant (Variation ID: 521166). 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 tolerated, 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.
Fulgent Genetics,Fulgent Genetics RCV000765815 SCV000897205 uncertain significance Ciliary dyskinesia, primary, 3 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000629297 SCV001452475 uncertain significance Primary ciliary dyskinesia 2020-04-18 no assertion criteria provided clinical testing

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