ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly) (rs1397965282)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776974 SCV000912647 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776974 SCV001185056 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001036972 SCV001200363 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 1632 of the BRCA1 protein (p.Val1632Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer and in her unaffected mother (PMID: 30254663). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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.
Brotman Baty Institute,University of Washington RCV001072804 SCV001238251 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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