ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.679G>C (p.Gly227Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003010282 SCV003312413 uncertain significance Familial cancer of breast 2022-02-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 227 of the BARD1 protein (p.Gly227Arg). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. 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. 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.

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