ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6566G>A (p.Arg2189Gln)

gnomAD frequency: 0.00002  dbSNP: rs747789567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521113 SCV000618590 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing The R2189Q variant in the DNAH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2189Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2189Q as a variant of uncertain significance.
Invitae RCV002525150 SCV003507889 benign Primary ciliary dyskinesia 2023-12-03 criteria provided, single submitter clinical testing

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