ClinVar Miner

Submissions for variant NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter)

gnomAD frequency: 0.00001  dbSNP: rs751680143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive Genetics, University of Münster RCV000791328 SCV000882699 likely pathogenic Non-obstructive azoospermia; Spermatogenesis maturation arrest 2019-01-31 criteria provided, single submitter research The index patient with azoospermia due to meiotic arrest carries two rare variants in exon 13 of the STAG3 gene (c.1262T>G, p.Leu421Arg and c.1312C>T, p.Arg428Ter) in a compound heterozygous state (proven by analyses of the parents). The unaffected brother only carries the variant c.1262T>G. In silico prediction and in vitro experiments support pathogenicity of the compound heterozygous variants in this case (detailed in the manuscript). According to the 2015 ACMG guidelines, both variants are classified as likely pathogenic.
OMIM RCV001797138 SCV002039150 pathogenic Spermatogenic failure 61 2021-12-20 no assertion criteria provided literature only

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