ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1838G>A (p.Arg613Lys) (rs786203937)

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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 RCV000167455 SCV000218311 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-24 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000473402 SCV000549408 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-02-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 613 of the BRCA1 protein (p.Arg613Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (rs786203937, ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26911350). ClinVar contains an entry for this variant (Variation ID: 187705). 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 lysine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000167455 SCV000909362 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing

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