ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)

gnomAD frequency: 0.00042  dbSNP: rs140227610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543694 SCV001762392 uncertain significance Primary ciliary dyskinesia 3 2021-06-09 criteria provided, single submitter clinical testing DNAH5 c.1114A>G (rs140227610) has been identified in a large population dataset and the minor allele frequency is neither low enough to consider the variant rare (<0.1%) nor high enough to consider it a population polymorphism (>1%) within the African/African-American subpopulation (gnomAD: 34/24834 alleles; 0.14%, no homozygotes). This variant has not been reported in ClinVar nor the literature to our knowledge. Three bioinformatic tools queried predict that this substitution would be tolerated and the threonine residue at this position is evolutionarily conserved across most mammalian species assessed. We consider the clinical significance of c.1114A>G to be uncertain at this time.
Invitae RCV002071964 SCV002397071 likely benign Primary ciliary dyskinesia 2024-01-03 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV002071964 SCV002573556 uncertain significance Primary ciliary dyskinesia 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002071964 SCV002746584 likely benign Primary ciliary dyskinesia 2022-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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