Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001211311 | SCV001382843 | uncertain significance | Oligosynaptic infertility; 46,XY disorder of sex development | 2019-07-12 | criteria provided, single submitter | clinical testing | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NR5A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 6 of the NR5A1 gene. It does not directly change the encoded amino acid sequence of the NR5A1 protein, but it affects a nucleotide within the consensus splice site of the intron. |
| 3billion | RCV002283528 | SCV002572809 | uncertain significance | 46,XY sex reversal 3 | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tools predict the variant to alter splicing and produce an abnormal transcript (SpliceAI: 0.93). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |