ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.991A>T (p.Met331Leu) (rs1380876424)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575763 SCV000668881 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-01 criteria provided, single submitter clinical testing
Color RCV000575763 SCV000913143 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing
Invitae RCV000794975 SCV000934413 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 331 of the BRIP1 protein (p.Met331Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine 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: 483145). 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.
Mendelics RCV000709555 SCV000839389 uncertain significance Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing

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