ClinVar Miner

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

gnomAD frequency: 0.00850  dbSNP: rs77587352
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Total submissions: 5
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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
GeneDx RCV000962307 SCV001783035 uncertain significance not provided 2020-09-14 criteria provided, single submitter clinical testing Published functional studies demonstrate impaired autophagosomal degradation and decreased or defective transcriptional activity (Ferrari et al., 2016; Bouilly et al., 2011).; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33095795, 31589614, 31293321, 21837770, 27798098, 26848058, 25514101)
H3Africa Consortium RCV001777153 SCV002014651 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.061, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
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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