ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4315C>T (p.Leu1439Phe) (rs781260818)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197844 SCV000254985 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 1439 of the BRCA1 protein (p.Leu1439Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs781260818, ExAC 0.003%). This variant was reported in a study that screened subjects for variants in the BRCA1 gene. No clinical information was provided about the subjects in this study (PMID: 20167696). ClinVar contains an entry for this variant (Variation ID: 216668). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function or cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000221961 SCV000277556 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000439478 SCV000519969 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000221961 SCV000909271 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.