ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met) (rs760409547)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440563 SCV000510686 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000467981 SCV000551736 uncertain significance Primary ciliary dyskinesia 2016-06-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 2779 of the DNAH11 protein (p.Leu2779Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs760409547, ExAC 0.02%) but has not been reported in the literature in individuals with a DNAH11-related disease. 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, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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