Submissions for variant NM_000038.6(APC):c.1742del (p.Lys581fs)

dbSNP: rs1060503259

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003337274	SCV000552453	pathogenic	Familial adenomatous polyposis 1	2016-04-27	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with familial adenomatous polyposis (FAP) (PMID: 20223039, 20685668). This sequence change deletes 1 nucleotide from exon 14 of the APC mRNA (c.1742delA), causing a frameshift at codon 581. This creates a premature translational stop signal (p.Lys581Argfs*9) and is expected to result in an absent or disrupted protein product.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV002463448	SCV002600283	pathogenic	Familial adenomatous polyposis 1	2022-09-13	criteria provided, single submitter	clinical testing	A heterozygous 1 base pair deletion in exon 14 of the APC gene that results in a frameshift and premature truncation of the protein 9 amino acids downstream to codon 581 was detected. The observed variant has not been reported in the 1000 genomes, gnomAD and our internal database. The in silico predictions of the variant is damaging by MutationTaster2. The reference base is conserved across species. In summary, the variant meets our criteria to be classified as a pathogenic.
Myriad Genetics, Inc.	RCV003337274	SCV004045718	pathogenic	Familial adenomatous polyposis 1	2023-05-02	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.