- •The frequency of NR5A1 variants in premature ovarian insufficiency found in this study was is in keeping with prior studies.
- •The p.Val15Met variant is a cause of sporadic premature ovarian insufficiency with primary amenorrhea.
- •In silico predictions can contribute to incorrect variant curation.
- •A recurrent allele in African women with premature ovarian insufficiency has no detectable functional impact.
- •Women with diminished ovarian reserve can have rare non-synonymous NR5A1 variants, albeit with no detectable functional consequence.
- •NR5A1 variants may have a subtle impact on protein function and may cause mild ovarian deficiency.
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