ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1621C>T (p.Gln541Ter) (rs137854572)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490845 SCV000579858 pathogenic Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503851 SCV000591081 pathogenic Familial adenomatous polyposis criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657602 SCV000860241 pathogenic not provided 2018-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000657602 SCV000779343 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing This variant is denoted APC c.1621C>T at the cDNA level and p.Gln541Ter (Q541X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported several individuals with polyposis (Abraham 2000, De Rosa 2004, Fodde 1992, Friedl 2005, Miyoshi 1992, Resta 2001, Wallis 1999) and is considered pathogenic.
Invitae RCV000000843 SCV000647187 pathogenic Familial adenomatous polyposis 1 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln541*) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis (FAP) (PMID: 11317365, 1316610, 1324223, 20223039, 20685668). ClinVar contains an entry for this variant (Variation ID: 806). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000843 SCV000020993 pathogenic Familial adenomatous polyposis 1 1992-08-01 no assertion criteria provided literature only
OMIM RCV000000844 SCV000020994 pathogenic Brain tumor-polyposis syndrome 2 1992-08-01 no assertion criteria provided literature only

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