ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3503A>C (p.Lys1168Thr) (rs749589266)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701820 SCV000830639 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-03-18 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 1168 of the BRIP1 protein (p.Lys1168Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is present in population databases (rs749589266, ExAC 0.002%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 439028). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506530 SCV000600917 uncertain significance not specified 2017-05-12 criteria provided, single submitter clinical testing

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