ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu) (rs876660005)

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Total submissions: 6
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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 Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000217281 SCV000688382 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-30 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616046 SCV000744659 likely benign Breast-ovarian cancer, familial 1 2015-09-21 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
Invitae RCV000462014 SCV000549273 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-18 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). However, in one of these individuals, a pathogenic allele was also identified in BRCA2, which suggests that this c.2393C>T variant was not the primary cause of disease in that individual. 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.

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