ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1114C>T (p.Leu372Phe) (rs786202637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569842 SCV000666258 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000538350 SCV000633534 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 372 of the BRIP1 protein (p.Leu372Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast cancer (PMID: 26921362). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this variant has uncertain impact on BRIP1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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