ClinVar Miner

Submissions for variant NM_000038.6(APC):c.931A>T (p.Lys311Ter)

dbSNP: rs1064794114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485442 SCV000567879 pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing This pathogenic variant is denoted APC c.931A>T at the cDNA level and p.Lys311Ter (K311X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. APC Lys311Ter has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a colorectal tumor (Olschwang 1997). We consider this variant to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003335355 SCV002235576 pathogenic Familial adenomatous polyposis 1 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 419800). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys311*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).
Myriad Genetics, Inc. RCV003335355 SCV004044670 pathogenic Familial adenomatous polyposis 1 2023-04-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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