ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)

gnomAD frequency: 0.09802  dbSNP: rs2277046
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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 RCV000155501 SCV000205199 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr4220Ala in exon 73 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 7.8% (670/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2277046).
PreventionGenetics, part of Exact Sciences RCV000155501 SCV000307696 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095057 SCV000452957 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 RCV000350973 SCV001000242 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095057 SCV001738553 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001725130 SCV001960252 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27989800, 23678272)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001095057 SCV002048622 benign Primary ciliary dyskinesia 3 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000350973 SCV002676359 benign Primary ciliary dyskinesia 2014-12-01 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 RCV001725130 SCV005305986 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000350973 SCV001462288 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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