ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His) (rs863224764)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197445 SCV000254996 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 1757 of the BRCA1 protein (p.Asp1757His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant has not been published in the literature and is not present in population databases. 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, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV001190128 SCV001357545 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001072597 SCV001238011 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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