ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)

gnomAD frequency: 0.48933  dbSNP: rs7703349
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155511 SCV000205210 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr1384Thr in exon 27 of DNAH5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 46.7% (4011/8592) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs7703349).
PreventionGenetics, part of Exact Sciences RCV000155511 SCV000307762 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095018 SCV000453178 benign Primary ciliary dyskinesia 3 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000389507 SCV001000250 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095018 SCV001738642 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095018 SCV001875597 benign Primary ciliary dyskinesia 3 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001706048 SCV001896063 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000389507 SCV002632049 benign Primary ciliary dyskinesia 2014-11-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001706048 SCV005306058 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000389507 SCV001458403 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.