Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |
Invitae | RCV003535787 | SCV004317380 | likely benign | Primary ciliary dyskinesia | 2024-01-08 | criteria provided, single submitter | clinical testing |