ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu) (rs80357415)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047765 SCV000075778 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 740 of the BRCA1 protein (p.Val740Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 17221156). ClinVar contains an entry for this variant (Variation ID: 54505). 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. 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.
Ambry Genetics RCV000220800 SCV000277172 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000220800 SCV000688374 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111798 SCV000144343 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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