ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7295C>G (p.Ser2432Ter)

dbSNP: rs1580680919
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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 RCV001026236 SCV001188578 pathogenic Hereditary cancer-predisposing syndrome 2019-11-13 criteria provided, single submitter clinical testing The p.S2432* pathogenic mutation (also known as c.7295C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 7295. This changes the amino acid from a serine to a stop codon within coding exon 15. This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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