ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8731A>G (p.Asn2911Asp) (rs142852982)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489353 SCV000576552 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing The N2911D variant in the DNAH5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N2911D variant is observed in 34/10392 (0.33%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N2911D 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 where amino acids with similar properties to Asparagine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N2911D as a variant of uncertain significance.

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