ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)

gnomAD frequency: 0.00120  dbSNP: rs112217391
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724084 SCV000228131 uncertain significance not provided 2014-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000247012 SCV000307750 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089342 SCV001002153 likely benign Primary ciliary dyskinesia 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001089342 SCV002620411 benign Primary ciliary dyskinesia 2017-02-28 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.
GeneDx RCV000724084 SCV003919551 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001089342 SCV001458609 uncertain significance Primary ciliary dyskinesia 2020-01-17 no assertion criteria provided clinical testing

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