ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5420T>C (p.Ile1807Thr)

dbSNP: rs2050991229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153928 SCV003843642 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Invitae RCV003530166 SCV004262196 uncertain significance Hereditary breast ovarian cancer syndrome 2023-12-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1807 of the BRCA1 protein (p.Ile1807Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 868478). 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 with a negative predictive value of 95%. 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 RCV001077387 SCV001243307 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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