ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1171A>G (p.Ile391Val) (rs863224798)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195653 SCV000255144 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 391 of the BRIP1 protein (p.Ile391Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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: 216784). 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 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.
Ambry Genetics RCV000564729 SCV000666197 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000662590 SCV000785217 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-06-05 criteria provided, single submitter clinical testing

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