ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10415A>G (p.Lys3472Arg) (rs1057517890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413506 SCV000490977 uncertain significance not specified 2016-11-25 criteria provided, single submitter clinical testing The K3472R variant in the DNAH5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K3472R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K3472R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K3472R as a variant of uncertain significance.

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