ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) (rs876660005)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217281 SCV000277054 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing The p.P798L variant (also known as c.2393C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2393. The proline at codon 798 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000462014 SCV000549273 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 798 of the BRCA1 protein (p.Pro798Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 232813). An experimental study has shown that this missense change has no effect on BRCA1 protein function (PMID: 23867111). 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 Health, Inc RCV000217281 SCV000688382 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000616046 SCV000744659 likely benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Counsyl RCV000616046 SCV000785705 uncertain significance Breast-ovarian cancer, familial 1 2017-11-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616046 SCV000733643 likely benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701879 SCV001929359 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001701879 SCV001959708 likely benign not provided no assertion criteria provided clinical testing

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