ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.671G>C (p.Gly224Ala) (rs990737815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583227 SCV000689412 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-15 criteria provided, single submitter clinical testing
Invitae RCV000636123 SCV000757555 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 224 of the BRIP1 protein (p.Gly224Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. 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. 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 RCV000709559 SCV000839394 uncertain significance Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing

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