Submissions for variant NM_007294.4(BRCA1):c.235T>G (p.Phe79Val) (rs1597898362)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000819624	SCV000960295	uncertain significance	Hereditary breast and ovarian cancer syndrome	2018-07-15	criteria provided, single submitter	clinical testing	This sequence change replaces phenylalanine with valine at codon 79 of the BRCA1 protein (p.Phe79Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Brotman Baty Institute,University of Washington	RCV001076039	SCV001241716	not provided	Breast-ovarian cancer, familial 1		no assertion provided	in vitro

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