ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3569C>A (p.Ser1190Ter) (rs886039618)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255278 SCV000322536 likely pathogenic not provided 2016-04-18 criteria provided, single submitter clinical testing This variant is denoted APC c.3569C>A at the cDNA level and p.Ser1190Ter (S1190X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through protein truncation. Even though this variant occurs in the last exon, and nonsense-mediated decay is not expected to occur, it is significant since the last 1653 amino acids are no longer translated. Furthermore, the truncation would disrupt several functional domains and binding motifs (Azzopardi 2008, UniProt). This variant has been reported in at least one individual with FAP (Segditsas 2008) and is considered likely pathogenic.

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