ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) (rs886039641)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254735 SCV000322569 likely pathogenic not provided 2016-05-18 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted APC c.4793_4800delCTTCAAAAinsTGG at the cDNA level and p.Ala1598ValfsX32 (A1598VfsX32) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is ACTG[CTTCAAAA][TGG]TTAC. The variant causes a frameshift which changes an Alanine to a Valine at codon 1598, and creates a premature stop codon at position 32 of the new reading frame. Even though this frameshift occurs in the last exon of the gene, and nonsense-mediated decay is not expected to occur, it is significant since the last 1,246 amino acids are replaced by 31 incorrect residues. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. Based on the currently available information, we consider this variant to be likely pathogenic.
Ambry Genetics RCV001023055 SCV001184871 pathogenic Hereditary cancer-predisposing syndrome 2018-09-13 criteria provided, single submitter clinical testing The c.4793_4800delCTTCAAAAinsTGG pathogenic mutation, located in coding exon 15 of the APC gene, results from the deletion of 8 nucleotides and insertion of 3 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.A1598Vfs*32). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Mayo Clinic Laboratories, Mayo Clinic RCV000254735 SCV000691754 likely pathogenic not provided no assertion criteria provided clinical testing

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