ClinVar Miner

Submissions for variant NM_000125.4(ESR1):c.478G>T (p.Gly160Cys)

gnomAD frequency: 0.00153  dbSNP: rs149308960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972152 SCV001119846 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000972152 SCV005325248 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 10619354, 31669227)
PreventionGenetics, part of Exact Sciences RCV003918485 SCV004737526 likely benign ESR1-related disorder 2022-02-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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