ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)

gnomAD frequency: 0.00184  dbSNP: rs141168110
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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 RCV000150483 SCV000197669 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing p.Gln1172Lys in exon 23 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 0.3% (26/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs141168110).
Labcorp Genetics (formerly Invitae), Labcorp RCV000199834 SCV000252762 benign Primary ciliary dyskinesia 2025-01-29 criteria provided, single submitter clinical testing
Counsyl RCV000667191 SCV000791608 uncertain significance Primary ciliary dyskinesia 3 2017-05-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000667191 SCV001318034 likely benign Primary ciliary dyskinesia 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab RCV000667191 SCV001786948 likely benign Primary ciliary dyskinesia 3 2021-07-14 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000667191 SCV002557023 uncertain significance Primary ciliary dyskinesia 3 2020-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292476 SCV002586046 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DNAH5: BP4, BS2
Ambry Genetics RCV000199834 SCV002614634 benign Primary ciliary dyskinesia 2015-07-30 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.
Revvity Omics, Revvity RCV000667191 SCV003831738 uncertain significance Primary ciliary dyskinesia 3 2021-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000199834 SCV001458613 likely benign Primary ciliary dyskinesia 2019-12-04 no assertion criteria provided clinical testing

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