ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5035C>G (p.Leu1679Val)

dbSNP: rs934248073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824288 SCV000965181 uncertain significance Hereditary breast ovarian cancer syndrome 2023-02-13 criteria provided, single submitter clinical testing Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 665905). This missense change has been observed in individual(s) with breast cancer (PMID: 32803532). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1679 of the BRCA1 protein (p.Leu1679Val).
Breast Center, Key Laboratory of Carcinogenesis and Translational Research RCV000824288 SCV001430333 uncertain significance Hereditary breast ovarian cancer syndrome 2020-05-01 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001076268 SCV001241987 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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