Submissions for variant NM_001002294.3(FMO3):c.591_592del (p.Cys197_Asp198delinsTer)

dbSNP: rs3832024

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490504	SCV000267323	pathogenic	Trimethylaminuria	2016-03-18	criteria provided, single submitter	reference population
Labcorp Genetics (formerly Invitae), Labcorp	RCV002515594	SCV003523355	pathogenic	not provided	2024-03-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Cys197*) in the FMO3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FMO3 are known to be pathogenic (PMID: 20301282). This variant is present in population databases (rs780358952, gnomAD 0.2%). This premature translational stop signal has been observed in individual(s) with trimethylaminuria (PMID: 16996766, 17584019, 31401033, 33831674). This variant is also known as 21243_21244TG deletion. ClinVar contains an entry for this variant (Variation ID: 225364). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV002515594	SCV005197942	pathogenic	not provided	2023-08-28	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV000490504	SCV005417656	pathogenic	Trimethylaminuria		criteria provided, single submitter	clinical testing	PVS1+PM3+PP4
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000490504	SCV005918104	pathogenic	Trimethylaminuria	2023-01-02	criteria provided, single submitter	research