ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4726G>T (p.Glu1576Ter)

dbSNP: rs1554086134
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Total submissions: 2
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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 RCV000499734 SCV000591179 pathogenic Familial multiple polyposis syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV002341179 SCV002639089 pathogenic Hereditary cancer-predisposing syndrome 2017-05-19 criteria provided, single submitter clinical testing The p.E1576* pathogenic mutation (also known as c.4726G>T), located in coding exon 15 of the APC gene, results from a G to T substitution at nucleotide position 4726. This changes the amino acid from a glutamic acid to a stop codon within coding exon 15. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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