ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6919dup (p.Ser2307fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002378094 SCV002668196 likely pathogenic Hereditary cancer-predisposing syndrome 2022-10-19 criteria provided, single submitter clinical testing The c.6919dupT variant, located in coding exon 15 of the APC gene, results from a duplication of T at nucleotide position 6919, causing a translational frameshift with a predicted alternate stop codon (p.S2307Ffs*13). This alteration occurs at the 3' terminus of theAPC gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 537 amino acids of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc. RCV004565323 SCV004043036 pathogenic Familial adenomatous polyposis 1 2023-05-16 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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