ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.23T>A (p.Val8Asp)

dbSNP: rs2055739664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003238837 SCV003936514 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing Published functional studies are inconclusive: variant classified as having intermediate function based on a saturation genome editing (SGE) assay measuring cell survival (Findlay et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 142T>A; This variant is associated with the following publications: (PMID: 24389207, 20104584, 30209399)
Brotman Baty Institute, University of Washington RCV001076437 SCV001242194 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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