Submissions for variant NM_000038.6(APC):c.1600A>T (p.Lys534Ter)

dbSNP: rs1580569295

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004562820	SCV000964673	pathogenic	Familial adenomatous polyposis 1	2023-05-08	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 665501). This premature translational stop signal has been observed in individual(s) with APC-related conditions (PMID: 10612827). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys534*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).
Myriad Genetics, Inc.	RCV004562820	SCV004044917	pathogenic	Familial adenomatous polyposis 1	2023-05-02	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796258	SCV002037091	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001796258	SCV002037428	pathogenic	not provided		no assertion criteria provided	clinical testing