ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3604_3607del (p.Ser1202fs)

dbSNP: rs1408646734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533305 SCV000768288 pathogenic Familial adenomatous polyposis 1 2017-11-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Asn1979Thrfs*64) that lies downstream of this variant has been determined to be pathogenic (PMID: 9824584, 20434453, 26681312). This suggests that deletion of this region of the APC protein is causative of disease. This sequence change results in a premature translational stop signal in the APC gene (p.Ser1202Aspfs*62). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1642 amino acids of the APC protein.

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