ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2501G>A (p.Gly834Glu) (rs757383244)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537494 SCV000635850 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 834 of the BRCA1 protein (p.Gly834Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs757383244, ExAC 0.006%). This variant was reported in individuals with breast cancer and/or ovarian cancer (PMID: 26306726, 29470806). ClinVar contains an entry for this variant (Variation ID: 462587). 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.
Color RCV000582678 SCV000688387 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585609 SCV000692908 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582678 SCV001176597 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing Insufficient evidence

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