ClinVar Miner

Submissions for variant NM_000038.6(APC):c.948T>G (p.Tyr316Ter)

dbSNP: rs748010172
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004569050 SCV000647792 pathogenic Familial adenomatous polyposis 1 2017-02-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). This sequence change creates a premature translational stop signal at codon 316 (p.Tyr316*) of the APC gene. It is expected to result in an absent or disrupted protein product.

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