ClinVar Miner

Submissions for variant NM_000038.6(APC):c.664C>T (p.Gln222Ter)

dbSNP: rs1580423584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561800 SCV000930775 pathogenic Familial adenomatous polyposis 1 2022-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln222*) 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 familial adenomatous polyposis (PMID: 12527714, 23159591). ClinVar contains an entry for this variant (Variation ID: 638855). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004561800 SCV004933315 pathogenic Familial adenomatous polyposis 1 2024-03-12 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.
PreventionGenetics, part of Exact Sciences RCV004723181 SCV005338780 pathogenic APC-related disorder 2024-08-28 no assertion criteria provided clinical testing The APC c.664C>T variant is predicted to result in premature protein termination (p.Gln222*). This variant is alternatively referred to as c.694C>T utilizing transcript NM_00135497, and has been reported in multiple individuals with familial adenomatous polyposis (Table 3, Venesio et al. 2003. PubMed ID: 12527714; Table S4, Park et al. 2022. PubMed ID: 34897210; Table S1, Lagarde et al. 2010. PubMed ID: 20685668; Table 5, Kerr et al. 2012. PubMed ID: 23159591; Table 2, De la Fuente et al. 2007. PubMed ID: 17963004). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in APC are expected to be pathogenic. This variant is interpreted as pathogenic.

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