ClinVar Miner

Submissions for variant NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr)

dbSNP: rs2131289962
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Total submissions: 1
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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.

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