ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.31G>C (p.Val11Leu)

dbSNP: rs1555601019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507668 SCV000600321 uncertain significance not specified 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000637375 SCV000758831 uncertain significance Hereditary breast ovarian cancer syndrome 2022-07-08 criteria provided, single submitter clinical testing 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 438922). This missense change has been observed in individual(s) with breast cancer (PMID: 33278427). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 11 of the BRCA1 protein (p.Val11Leu).
Color Diagnostics, LLC DBA Color Health RCV001176784 SCV001340838 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001072347 SCV001237711 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
BRCAlab, Lund University RCV001072347 SCV004244208 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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