Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003748835 | SCV004522133 | uncertain significance | 46,XY sex reversal 9 | 2023-11-03 | criteria provided, single submitter | clinical testing | This variant, c.898_900dup, results in the insertion of 1 amino acid(s) of the ZFPM2 protein (p.Phe300dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774999938, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |