ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1606G>T (p.Glu536Ter)

dbSNP: rs138098808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570058 SCV000675940 pathogenic Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing The p.E536* pathogenic mutation (also known as c.1606G>T), located in coding exon 12 of the APC gene, results from a G to T substitution at nucleotide position 1606. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. 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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