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
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000506530	SCV000600917	uncertain significance	not specified	2017-05-12	criteria provided, single submitter	clinical testing
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.

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