ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1031G>A (p.Gly344Glu) (rs751841684)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560634 SCV000633527 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-07-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 344 of the BRIP1 protein (p.Gly344Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs751841684, ExAC 0.006%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Color RCV000580888 SCV000684107 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626975 SCV000747678 uncertain significance Breast carcinoma 2017-01-01 criteria provided, single submitter clinical testing

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