ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)

gnomAD frequency: 0.00021  dbSNP: rs137949961
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204742 SCV000259778 likely benign Primary ciliary dyskinesia 2024-07-30 criteria provided, single submitter clinical testing
Counsyl RCV000671435 SCV000796411 uncertain significance Primary ciliary dyskinesia 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)
Genome-Nilou Lab RCV000671435 SCV001786819 uncertain significance Primary ciliary dyskinesia 3 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000204742 SCV002683721 uncertain significance Primary ciliary dyskinesia 2019-09-27 criteria provided, single submitter clinical testing The p.R3000Q variant (also known as c.8999G>A), located in coding exon 54 of the DNAH5 gene, results from a G to A substitution at nucleotide position 8999. The arginine at codon 3000 is replaced by glutamine, an amino acid with highly similar properties. This variant was identified in a cohort of individuals of primary ciliary dyskinesia; however, additional genotype and phenotype information was limited (Andjelkovic M et al. PLoS ONE, 2018 Oct;13:e0205422). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000204742 SCV001452273 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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