ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) (rs1567769155)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772239 SCV000905357 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772239 SCV001185534 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-22 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001050456 SCV001214564 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-01 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with glycine at codon 1718 of the BRCA1 protein (p.Trp1718Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine. 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. This variant has been reported to 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 RCV001076083 SCV001241768 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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