Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195363 | SCV001365709 | uncertain significance | not specified | 2019-05-22 | criteria provided, single submitter | clinical testing | The p.Gln1110Lys variant in ALMS1 has not been previously reported in individuals with hearing loss or Alstrom syndrome and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4 |