Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001864559 | SCV002143884 | uncertain significance | 46,XY sex reversal 9 | 2021-10-28 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is present in population databases (rs761799802, gnomAD 0.02%). This sequence change falls in intron 4 of the ZFPM2 gene. It does not directly change the encoded amino acid sequence of the ZFPM2 protein. |