ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)

dbSNP: rs1554083998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500648 SCV000591108 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The p.Met730GlnfsX6 insertion variant was not previously identified in the literature nor by our laboratory. It is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 730 and leading to a premature stop codon 6 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the APC gene are an established mechanism of familial adenomatous polyposis and is the type of DNA alteration expected to cause the disorder. In summary, based on the above information this variant is classified as pathogenic.

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