Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV001543109 | SCV001761616 | uncertain significance | Osteopathia striata with cranial sclerosis | 2021-07-22 | criteria provided, single submitter | clinical testing | The AMER1 c.171G>T (p.Met57Ile) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). Five of seven in silico tools predict a benign effect of this variant on protein function (BP4), but these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with osteopathia striata with cranial sclerosis or Wilms tumor. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, BP4. |