ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3569C>T (p.Pro1190Leu) (rs755209182)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220504 SCV000278337 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-17 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000554022 SCV000635904 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1190 of the BRCA1 protein (p.Pro1190Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs755209182, ExAC 0.009%). This particular variant has been reported in an individual with suspected hereditary breast and/or ovarian cancer syndrome (PMID: 25556971). ClinVar contains an entry for this variant (Variation ID: 233875). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; 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 published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985402 SCV001133558 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing

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