ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1263G>A (p.Trp421Ter)

dbSNP: rs1554080106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521866 SCV000617332 pathogenic not provided 2020-03-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 24206555, 25525159, 20685668, 22449158, 20649969, 16264375)
Myriad Genetics, Inc. RCV004561492 SCV004043997 pathogenic Familial adenomatous polyposis 1 2023-05-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004561492 SCV004293610 pathogenic Familial adenomatous polyposis 1 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp421*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of familial adenomatous polyposis (PMID: 20685668). ClinVar contains an entry for this variant (Variation ID: 449331). For these reasons, this variant has been classified as Pathogenic.

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