ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8999G>A (p.Arg3000Gln) (rs137949961)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204742 SCV000259778 uncertain significance Primary ciliary dyskinesia 2019-01-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 3000 of the DNAH5 protein (p.Arg3000Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs137949961, ExAC 0.03%). This variant has not been reported in the literature in individuals with DNAH5-related disease. ClinVar contains an entry for this variant (Variation ID: 219734). 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: "Benign"; 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.
Counsyl RCV000671435 SCV000796411 uncertain significance Ciliary dyskinesia, primary, 3 2017-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001560455 SCV001782872 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing Identified by whole exome sequencing, along with a second DNAH5 variant, in an individual with a complex phenotype. However, this individual also harbors pathogenic variants in the BBS1 and SPAG1 genes.; Identified in an individual with primary ciliary dyskinesia, however, no second variant was identified (Andjelkovic et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30293640, 30300419)
Nilou-Genome Lab RCV000671435 SCV001786819 uncertain significance Ciliary dyskinesia, primary, 3 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000204742 SCV001452273 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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