ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu) (rs141465583)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470122 SCV000549354 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-19 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 977 of the BRCA1 protein (p.Pro977Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs141465583, ExAC 0.001%). This variant has been reported in an individual affected with pancreatic cancer (PMID: 27768182). Experimental studies have shown that this missense change does not impact the ability of BRCA1 to induce the formation of RAD51 foci in response to DNA damage (PMID: 27768182). In summary, this variant is a rare missense change that has not been shown to affect protein function. It has been reported in both the population and in an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000470122 SCV000591415 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575414 SCV000665827 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770745 SCV000902228 uncertain significance Breast and/or ovarian cancer 2017-06-15 criteria provided, single submitter clinical testing

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