Submissions for variant NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.02131  dbSNP: rs11555096

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174220	SCV000225485	other	not provided	2018-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020125	SCV000631825	other	Tyrosinemia type I	2018-12-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000020125	SCV001139660	benign	Tyrosinemia type I	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020125	SCV001273303	likely benign	Tyrosinemia type I	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV000020125	SCV001653435	likely benign	Tyrosinemia type I	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000174220	SCV001755981	benign	not provided	2018-01-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29326876, 27153395, 27535533, 25087612, 25333069, 21228398, 7977370, 11278491)
CeGaT Center for Human Genetics Tuebingen	RCV000174220	SCV002545296	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	FAH: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000174220	SCV005213307	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000012643	SCV000032878	pathogenic	Fumarylacetoacetase pseudodeficiency	1994-12-01	no assertion criteria provided	literature only
GeneReviews	RCV000020125	SCV000040447	not provided	Tyrosinemia type I		no assertion provided	literature only	A single pseudodeficiency allele, c.1021C>T (p.Arg341Trp), leads to decreased FAH enzyme activity and very little immunoreactive protein, but adequate amounts of FAH mRNA [Rootwelt et al 1994].
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000174220	SCV001739753	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000174220	SCV001808405	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701723	SCV001928625	benign	not specified		no assertion criteria provided	clinical testing