ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.485G>T (p.Arg162Leu) (rs61757643)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131634 SCV000186658 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000231093 SCV000291050 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-04-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 162 of the BRIP1 protein (p.Arg162Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs61757643, ExAC 0.03%) but has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 142492). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000662676 SCV000785383 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-07-19 criteria provided, single submitter clinical testing

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