Submissions for variant NM_032043.2(BRIP1):c.1303C>T (p.His435Tyr) (rs1060501758)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000475043	SCV000547311	uncertain significance	Familial cancer of breast; Fanconi anemia, complementation group J	2019-10-29	criteria provided, single submitter	clinical testing	This sequence change replaces histidine with tyrosine at codon 435 of the BRIP1 protein (p.His435Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 407833). 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: "Probably 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.
Counsyl	RCV000663159	SCV000786316	uncertain significance	Fanconi anemia, complementation group J; Neoplasm of ovary	2018-04-06	criteria provided, single submitter	clinical testing

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