Submissions for variant NM_032043.2(BRIP1):c.2726T>C (p.Leu909Pro) (rs770966270)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color	RCV000775413	SCV000909758	uncertain significance	Hereditary cancer-predisposing syndrome	2018-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV000548026	SCV000633635	uncertain significance	Familial cancer of breast; Fanconi anemia, complementation group J	2018-12-27	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with proline at codon 909 of the BRIP1 protein (p.Leu909Pro). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs770966270, ExAC 0.001%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 461127). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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