ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3028del (p.Ser1010fs)

dbSNP: rs1554084648
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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 RCV000503832 SCV000591127 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The p.Ser1010Valfsx12 variant has not been identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1010, leading to a premature stop codon 12 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 adenomatous polyposis (FAP) syndrome. In summary, based on the above information, this variant is classified as pathogenic.

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