ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) (rs1057518472)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413595 SCV000492142 likely pathogenic not provided 2016-12-07 criteria provided, single submitter clinical testing The G1203X variant in the APC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This substitution creates a nonsense variant, which changes a Glycine to a premature stop codon (GGA>TGA), and is predicted to cause loss of normal protein function through protein truncation as the last 1641 amino acids of the APC protein are lost. The G1203X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available evidence, G1203X is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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