ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.106C>T (p.Gln36Ter)

gnomAD frequency: 0.00004  dbSNP: rs773941688
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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 RCV002552337 SCV002149170 uncertain significance Familial adenomatous polyposis 1 2023-12-26 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 present in population databases (rs773941688, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with APC-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.
Baylor Genetics RCV002552337 SCV004197498 uncertain significance Familial adenomatous polyposis 1 2023-10-27 criteria provided, single submitter clinical testing

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