ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu)

dbSNP: rs387907258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686428 SCV000813946 uncertain significance Primary ciliary dyskinesia 2018-05-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2591 of the DNAH11 protein (p.Pro2591Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with a pathogenic variant in DNAH11 in an individual affected with primary ciliary dyskinesia (PMID: 22102620). ClinVar contains an entry for this variant (Variation ID: 36982). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
OMIM RCV000030677 SCV000053338 pathogenic Primary ciliary dyskinesia 7 2012-03-01 no assertion criteria provided literature only

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