ClinVar Miner

Submissions for variant NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) (rs77587352)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000962307 SCV001109383 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000154190 SCV000203838 pathogenic Premature ovarian failure 5 2014-12-16 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000154190 SCV001142377 likely pathogenic Premature ovarian failure 5 2020-01-06 no assertion criteria provided curation NM_001080413.3:c.271G>T in the NOBOX gene has an allele frequency of 0.028 in African subpopulation in the gnomAD database. The NOBOX c.271G>T (p.Gly91Trp) variant has been identified in five individuals affected with primary ovarian insufficiency (PMID: 25514101; 21837770). Functional studies of NOBOX variants revealed that p.Gly91Trp was deleterious for protein function (PMID: 25514101). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PS3; PP4; PS4_Supporting.

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