ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) (rs370932895)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723974 SCV000231916 uncertain significance not provided 2014-07-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218296 SCV000271685 uncertain significance not specified 2017-02-23 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000226017 SCV000286970 uncertain significance Primary ciliary dyskinesia 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 3491 of the DNAH11 protein (p.Arg3491His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs370932895, ExAC 0.2%). This variant has not been reported in the literature in individuals with a DNAH11-related disease. ClinVar contains an entry for this variant (Variation ID: 198347). 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 has uncertain impact on DNAH11 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735289 SCV000854442 uncertain significance Cleft upper lip; Cognitive impairment; Median cleft lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723974 SCV001155048 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001160743 SCV001322566 uncertain significance Ciliary dyskinesia, primary, 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000723974 SCV001791033 uncertain significance not provided 2019-05-06 no assertion criteria provided clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30755392)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000723974 SCV001799037 uncertain significance not provided no assertion criteria provided clinical testing

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