Submissions for variant NM_000038.6(APC):c.1369del (p.Ser457fs)

dbSNP: rs387906229

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV000000831	SCV004045552	pathogenic	Familial adenomatous polyposis 1	2023-05-01	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics	RCV005372222	SCV006035105	pathogenic	Hereditary cancer-predisposing syndrome	2025-02-06	criteria provided, single submitter	clinical testing	The c.1369delT pathogenic mutation, located in coding exon 10 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1369, causing a translational frameshift with a predicted alternate stop codon (p.S457Hfs*10). This variant was reported in individual(s) with features consistent with APC-related familial adenomatous polyposis (FAP) (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
OMIM	RCV000000831	SCV000020981	pathogenic	Familial adenomatous polyposis 1	1991-08-09	no assertion criteria provided	literature only