ClinVar Miner

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

dbSNP: rs139196838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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
All of Us Research Program, National Institutes of Health RCV003999378 SCV004837251 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003767015 SCV004933337 benign Familial adenomatous polyposis 1 2024-02-22 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.
Ambry Genetics RCV003584661 SCV005027520 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-07 criteria provided, single submitter clinical testing The c.295C>A variant (also known as p.R99R), located in coding exon 3 of the APC gene, results from a C to A substitution at nucleotide position 295. This nucleotide substitution does not change the arginine at codon 99. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this alteration remains unclear.

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