ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val)

dbSNP: rs1034551306
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524593 SCV000633673 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2017-06-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, this variant has uncertain impact on BRIP1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a BRIP1-related disease. This sequence change replaces aspartic acid with valine at codon 1141 of the BRIP1 protein (p.Asp1141Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine.

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