ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3915A>G (p.Ala1305=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004068307 SCV003286075 likely benign Familial adenomatous polyposis 1 2023-06-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007731 SCV004819947 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-04-03 criteria provided, single submitter clinical testing This variant is located in the APC protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV004068307 SCV004932914 benign Familial adenomatous polyposis 1 2024-03-22 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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