ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2567dup (p.Gly857fs)

dbSNP: rs1554084266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478383 SCV000570536 pathogenic not provided 2016-06-13 criteria provided, single submitter clinical testing This duplication of one nucleotide in APC is denoted c.2567dupG at the cDNA level and p.Gly857ArgfsX55 (G857RfsX55) at the protein level. The normal sequence, with the base that is duplicated in braces, is GAAC[G]CGGA. The duplication causes a frameshift which changes a Glycine to an Arginine at codon 857, and creates a premature stop codon at position 55 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. We consider this variant to be pathogenic.
Myriad Genetics, Inc. RCV004564182 SCV004044014 pathogenic Familial adenomatous polyposis 1 2023-05-04 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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