ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1654_1658del (p.Ser552fs)

dbSNP: rs876659452
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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 RCV000217935 SCV000275949 pathogenic Hereditary cancer-predisposing syndrome 2015-05-21 criteria provided, single submitter clinical testing The c.1654_1658delTCTTG pathogenic mutation, located in coding exon 13 of the APC gene, results from a deletion of 5 nucleotides at positions 1654 to 1658, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003337255 SCV004044607 pathogenic Familial adenomatous polyposis 1 2023-05-02 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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