ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1489C>A (p.Pro497Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003607027 SCV004531650 uncertain significance Familial cancer of breast 2022-12-20 criteria provided, single submitter clinical testing 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 disruptive. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 497 of the BARD1 protein (p.Pro497Thr).
Baylor Genetics RCV003607027 SCV005054611 uncertain significance Familial cancer of breast 2024-01-26 criteria provided, single submitter clinical testing

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