Submissions for variant NM_007294.4(BRCA1):c.5114T>G (p.Leu1705Arg) (rs397507242)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233568	SCV000289821	uncertain significance	Hereditary breast and ovarian cancer syndrome	2015-11-25	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with arginine at codon 1705 of the BRCA1 protein (p.Leu1705Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Brotman Baty Institute,University of Washington	RCV001076407	SCV001242150	not provided	Breast-ovarian cancer, familial 1		no assertion provided	in vitro

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