ClinVar Miner

Submissions for variant NM_000038.6(APC):c.594dup (p.Ala199fs)

dbSNP: rs1554072616
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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 RCV000503760 SCV000591041 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The p.Ala199CysfsX53 variant has not been identified in the literature or in the public databases. The p.Ala199CysfsX53 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 199, leading to a premature stop codon 53 amino acids downstream, thus overall resulting in a truncated or absent APC protein. Loss of function of the APC gene is an established disease mechanism in familial colorectal polyposis patients, In summary, based on the above information, this variant is classified as pathogenic.

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