ClinVar Miner

Submissions for variant NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) (rs886039642)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255777 SCV000322571 likely pathogenic not provided 2017-03-10 criteria provided, single submitter clinical testing This apparently mosaic deletion of two nucleotides is denoted APC c.508_509delGA at the cDNA leveland p.Asp170Ter (D170X) at the protein level. The normal sequence, with the bases that are deleted in braces, isAATA{GA}TAGT. The deletion creates a nonsense variant, which changes an Aspartic Acid to a premature stop codon.Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal proteinfunction through either protein truncation or nonsense-mediated mRNA decay, and is considered likely pathogenic.
Invitae RCV000694331 SCV000822771 pathogenic Familial adenomatous polyposis 1 2018-03-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp170*) 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 been reported in an individual affected with familial adenomatous polyposis and papillary thyroid carcinoma (PMID: 27623068). ClinVar contains an entry for this variant (Variation ID: 265581). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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