ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5302T>G (p.Cys1768Gly) (rs431825416)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218532 SCV000276705 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-26 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV001062543 SCV001227350 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 1768 of the BRCA1 protein (p.Cys1768Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine 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. ClinVar contains an entry for this variant (Variation ID: 96948). This variant has been reported to have conflicting or insufficient data to determine the effect on 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.
Sharing Clinical Reports Project (SCRP) RCV000083069 SCV000115143 uncertain significance Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000083069 SCV001238094 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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