ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.242A>T (p.Gln81Leu)

dbSNP: rs886040862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000257959 SCV000324811 uncertain significance Breast and/or ovarian cancer 2015-09-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182322 SCV001347744 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-30 criteria provided, single submitter clinical testing
GeneDx RCV001770226 SCV001993141 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 361A>T; Published functional studies demonstrate no damaging effect: variant classified as functional based on a saturation genome editing (SGE) assay measuring cell survival (Findlay 2018); This variant is associated with the following publications: (PMID: 30209399)
Brotman Baty Institute, University of Washington RCV001077775 SCV001243758 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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