ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6062C>A (p.Pro2021His)

dbSNP: rs1227418580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298798 SCV001487865 uncertain significance Primary ciliary dyskinesia 2020-06-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DNAH11-related conditions. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with histidine at codon 2021 of the DNAH11 protein (p.Pro2021His). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and histidine.

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