ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.202A>G (p.Ile68Val) (rs1555597195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567414 SCV000660966 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-12 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000694751 SCV000823209 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 68 of the BRCA1 protein (p.Ile68Val). The isoleucine residue is highly 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 not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 479193). This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV001076736 SCV001242546 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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