Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825470 | SCV000966771 | uncertain significance | not specified | 2018-10-10 | criteria provided, single submitter | clinical testing | The p.Glu178Lys variant in TMC1 has not been previously reported in individuals with hearing loss and was absent from large population studies. Another missense variant at the same amino acid position (p.Glu178Asp) has been reported in the homozygous state in an individual with hearing loss (Atik 2015), suggesting chan ges at this position may not be tolerated. Computational prediction tools and co nservation analysis do not provide strong support for or against an impact to th e protein. In summary, the clinical significance of this variant is uncertain. A CMG/AMP Criteria applied: PM2. |