Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV001526821 | SCV001737475 | uncertain significance | Neurofibromatosis, type 2 | 2021-05-27 | criteria provided, single submitter | clinical testing | The NF2 c.1739C>T (p.Pro580Leu) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant is located adjacent to the acceptor splice site of intron 15, however RNA studies suggest that the variant does not affect splicing (internal data). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 2. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met. |