ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)

gnomAD frequency: 0.00001  dbSNP: rs80357095
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166323 SCV000217109 likely benign Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000586073 SCV000533862 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15235020, 24845084, 15385441)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586073 SCV000605886 uncertain significance not provided 2020-07-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586073 SCV000699158 uncertain significance not provided 2016-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166323 SCV001342847 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV001432824 SCV001635603 likely benign Hereditary breast ovarian cancer syndrome 2024-01-24 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077577 SCV000109380 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2012-08-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077577 SCV000145122 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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