ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.9553C>A (p.Pro3185Thr)

dbSNP: rs960341299
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532125 SCV000624188 uncertain significance Primary ciliary dyskinesia 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 3185 of the DNAH11 protein (p.Pro3185Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. 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 disease. 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.

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