ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val) (rs786202721)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165675 SCV000216413 benign Hereditary cancer-predisposing syndrome 2019-04-22 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Invitae RCV001041837 SCV001205482 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-02-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1807 of the BRCA1 protein (p.Ile1807Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186137). 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 valine 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional 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.
Color Health, Inc RCV000165675 SCV001352268 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-01 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077384 SCV001243304 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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