ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4841C>T (p.Pro1614Leu) (rs766305255)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196336 SCV000254990 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-05-29 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1614 of the BRCA1 protein (p.Pro1614Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant has not been published in the literature and is present in population databases (no rsID, 0.005%). Although 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"), the leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by functional studies. In summary, this is a rare missense change with uncertain impact on protein function. Although there is no indication that this variant causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508649 SCV000605894 uncertain significance not specified 2017-02-27 criteria provided, single submitter clinical testing

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