ClinVar Miner

Submissions for variant NM_005448.2(BMP15):c.985C>T (p.Arg329Cys)

gnomAD frequency: 0.00002  dbSNP: rs782375794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002282500 SCV002571541 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing Reported heterozygous in a female with premature ovarian failure (Wang et al., 2010); Published functional studies demonstrate significantly reduced activation of the SMAD pathways (Rossetti et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19438907, 31957178, 29544636, 34426522)
Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano RCV001249554 SCV001423528 likely pathogenic Ovarian dysgenesis 2 2019-12-01 no assertion criteria provided research

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