ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2825del (p.Asn942fs)

dbSNP: rs1554084511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004562624 SCV001209689 pathogenic Familial adenomatous polyposis 1 2019-11-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 492659). This sequence change results in a premature translational stop signal in the APC gene (p.Asn942Ilefs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,902 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant disrupts the C-terminus of the APC protein. Another variant that disrupts this region (p.Tyr2645Lysfs*14) has been determined to be pathogenic (PMID: PMID: 9824584, 1316610, 27081525, 8381579, 22135120, 15311282, 17293347, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000583175 SCV000691727 likely pathogenic not provided no assertion criteria provided clinical testing

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