ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp)

dbSNP: rs727502968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150437 SCV000197622 uncertain significance not specified 2017-07-27 criteria provided, single submitter clinical testing The p.Val1846Asp variant in DNAH11 has not been previously identified in individ uals with pulmonary disease or in large population studies. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Val18 46Asp variant is uncertain.
Invitae RCV001850041 SCV002121174 uncertain significance Primary ciliary dyskinesia 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1846 of the DNAH11 protein (p.Val1846Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 163106). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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