ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2870C>T (p.Pro957Leu) (rs786203077)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166219 SCV000216998 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-17 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000469949 SCV000547253 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 957 of the BRIP1 protein (p.Pro957Leu). 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) and has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 186600). 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. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508234 SCV000600908 uncertain significance not specified 2016-08-10 criteria provided, single submitter clinical testing

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