Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825329 | SCV000966624 | uncertain significance | not specified | 2018-07-05 | criteria provided, single submitter | clinical testing | The p.Asp1662His variant in DNAH11 has not been previously reported in individua ls with primary ciliary dyskinesia, but has been identified in 1/111064 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org). Computational prediction tools and conservation analysis suggest tha t the p.Asp1662His variant may not impact the protein, though this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of the p.Asp1662His variant is uncertain. ACMG/AMP criteria applied: PM 2, BP4. |