Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002250983 | SCV002521285 | uncertain significance | 46,XY sex reversal 3 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97; 3Cnet: 0.78). Different missense changes at the same codon (p.Cys30Arg, p.Cys30Ser, p.Cys30Trp) have been reported to be associated with NR5A1 related disorder (ClinVar ID: VCV000570773 / PMID: 22549935, 33202802). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline. |