ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7580T>C (p.Val2527Ala) (rs587782676)

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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 RCV000132102 SCV000187167 likely benign Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508502 SCV000600757 uncertain significance not specified 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV000637450 SCV000758909 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 2527 of the BRCA2 protein (p.Val2527Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 142729). 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 disruptive, 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.
Color Health, Inc RCV000132102 SCV001344654 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-10 criteria provided, single submitter clinical testing

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