ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.123-10C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002575935 SCV002931683 uncertain significance BAP1-related tumor predisposition syndrome 2022-07-25 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the BAP1 gene. It does not directly change the encoded amino acid sequence of the BAP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (Invitae). 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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