ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)

gnomAD frequency: 0.39500  dbSNP: rs6554827
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Total submissions: 10
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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 RCV000155510 SCV000205209 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg1458Arg in exon 28 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 44.3% (3807/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6554827).
PreventionGenetics, part of Exact Sciences RCV000155510 SCV000307767 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095123 SCV000453166 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 RCV000343705 SCV001000249 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095123 SCV001738641 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095123 SCV001875596 benign Primary ciliary dyskinesia 3 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001706047 SCV001881134 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000343705 SCV002629045 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 RCV001706047 SCV005306053 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000343705 SCV001458402 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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