ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.378A>G (p.Glu126=)

gnomAD frequency: 0.02063  dbSNP: rs3818577
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Total submissions: 8
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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 RCV000150493 SCV000197679 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu126Glu in exon 5 of DNAI1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 4.0% (175/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs3818577).
PreventionGenetics, part of Exact Sciences RCV000150493 SCV000311864 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390341 SCV000479742 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000390341 SCV000563056 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000665896 SCV000790093 benign Kartagener syndrome 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV001705996 SCV001911211 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000390341 SCV002620474 benign Primary ciliary dyskinesia 2014-06-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Natera, Inc. RCV000390341 SCV001458182 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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