ClinVar Miner

Submissions for variant NM_000125.3(ESR1):c.1181G>A (p.Arg394His) (rs1131692059)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000495838 SCV000854755 pathogenic Estrogen resistance 2018-12-03 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000495838 SCV000537863 likely pathogenic Estrogen resistance 2017-03-24 no assertion criteria provided literature only The variant is absent from the ExAC database, it consegregates with disease phenotype, it is highly conserved and located in the steroid binding region of the estrogen receptor. It is predicted to be disease causing by MutationTaster. Functional studies show decreased estrogen receptor activity.

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