ClinVar Miner

Submissions for variant NM_000038.6(APC):c.573T>A (p.Tyr191Ter) (rs185154886)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255000 SCV000322286 likely pathogenic not provided 2015-11-12 criteria provided, single submitter clinical testing This variant is denoted APC c.573T>A at the cDNA level and p.Tyr191Ter (Y191X) at the protein level.The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAA), and ispredicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay.Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.

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