ClinVar Miner

Submissions for variant NM_000038.6(APC):c.295C>A (p.Arg99=)

dbSNP: rs139196838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003767015 SCV000647286 uncertain significance Familial adenomatous polyposis 1 2022-12-24 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 469782). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects codon 99 of the APC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the APC protein.
Color Diagnostics, LLC DBA Color Health RCV003584661 SCV004359281 likely benign Hereditary cancer-predisposing syndrome 2022-08-31 criteria provided, single submitter clinical testing

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