Submissions for variant NM_000038.6(APC):c.2894del (p.Asn965fs)

dbSNP: rs1554084575

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563438	SCV000768219	pathogenic	Familial adenomatous polyposis 1	2019-02-12	criteria provided, single submitter	clinical testing	A different truncation (p.Glu1309Argfs*11) that lies downstream of this variant has been determined to be pathogenic (PMID: 24664542, 20223039, 9101302, 8162022, 20685668). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. This sequence change results in a premature translational stop signal in the APC gene (p.Asn965Ilefs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,879 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This particular truncation has been reported in the literature in several individuals affected with familial adenomatous polyposis (PMID: 9101302, 20685668).
Myriad Genetics, Inc.	RCV004563438	SCV004045652	pathogenic	Familial adenomatous polyposis 1	2023-05-05	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.