ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2802T>G (p.Phe934Leu) (rs1259968679)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692123 SCV000819932 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 934 of the BRIP1 protein (p.Phe934Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 439026). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
PreventionGenetics RCV000679783 SCV000807139 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507680 SCV000600907 uncertain significance not specified 2017-06-19 criteria provided, single submitter clinical testing

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