ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.-187G>A

dbSNP: rs1554060186
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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 RCV003767020 SCV000647370 uncertain significance Familial adenomatous polyposis 1 2023-12-18 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC 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 APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 469857). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Color Diagnostics, LLC DBA Color Health RCV001185228 SCV001351395 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-02 criteria provided, single submitter clinical testing This variant is located in the APC protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer 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.
All of Us Research Program, National Institutes of Health RCV003999379 SCV004829773 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-08-15 criteria provided, single submitter clinical testing

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