ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met) (rs552505690)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165574 SCV000216308 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000458990 SCV000549367 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 571 of the BRCA1 protein (p.Ile571Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs552505690, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 186051). 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 methionine 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.
Counsyl RCV000662805 SCV000785638 uncertain significance Breast-ovarian cancer, familial 1 2017-10-17 criteria provided, single submitter clinical testing
Color RCV000165574 SCV000903892 likely benign Hereditary cancer-predisposing syndrome 2016-05-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985373 SCV001133495 uncertain significance not provided 2019-02-08 criteria provided, single submitter clinical testing

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