Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195361 | SCV001365707 | uncertain significance | not specified | 2019-05-02 | criteria provided, single submitter | clinical testing | The p.Lys1245Met 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 do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2. |