ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.4000A>G (p.Ile1334Val) (rs117965307)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498937 SCV000589989 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing The I1334V variant in the DNAH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I1334V variant is observed in 21/8608 (0.2%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The I1334V 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 not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret I1334V as a variant of uncertain significance.

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