ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) (rs1554082135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576769 SCV000677878 likely pathogenic Familial adenomatous polyposis 1 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000576769 SCV000768263 pathogenic Familial adenomatous polyposis 1 2017-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val569*) 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 not been reported in the literature in individuals with APC-related disease. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657832 SCV000779588 pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted APC c.1705delG at the cDNA level and p.Val569Ter (V569X) at the protein level. The normal sequence, with the base that is deleted in brackets, is AAGT[delG]TGAA. The deletion creates a nonsense variant, which changes a Valine to a premature stop codon. This variant is predicted 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 pathogenic.

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