ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg) (rs397509229)

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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 RCV000985429 SCV001133612 uncertain significance not provided 2019-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023586 SCV001185486 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-28 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001047894 SCV001211877 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-03-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1710 of the BRCA1 protein (p.Gly1710Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs397509229, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant has been reported not to substantially affect BRCA1 protein function (PMID: 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.
Color RCV001023586 SCV001346186 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-24 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077637 SCV001243595 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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