ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1139A>G (p.Gln380Arg) (rs876659193)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509823 SCV000608007 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000537618 SCV000635779 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 380 of the BRCA1 protein (p.Gln380Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a BRCA1-related disease. 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 arginine 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. In summary, this variant has uncertain impact on BRCA1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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