ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr) (rs786203958)

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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 RCV000167486 SCV000218344 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-25 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505886 SCV000600322 uncertain significance not specified 2016-12-30 criteria provided, single submitter clinical testing
Color RCV000167486 SCV000688427 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-23 criteria provided, single submitter clinical testing
Invitae RCV001202434 SCV001373546 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-19 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1083 of the BRCA1 protein (p.Met1083Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 187732). 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.

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