ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.43A>G (p.Ile15Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224243 SCV001396430 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-06-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 15 of the BRCA1 protein (p.Ile15Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast and/or ovarian cancer (PMID: 12815604, 30702160). This variant is also known as c.162A>G in the literature. This variant has been reported to have conflicting or insufficient data to determine the effect on BRCA1 protein function (PMID: 25823446, 30209399). 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.
Brotman Baty Institute,University of Washington RCV001072363 SCV001237731 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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