Submissions for variant NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)

gnomAD frequency: 0.01744  dbSNP: rs146934311

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035092	SCV000058732	benign	not specified	2012-04-12	criteria provided, single submitter	clinical testing	Phe128Ser in exon 5 of TAZ: This variant is not expected to have clinical signif icance because it has been identified in 5.1% (165/3215) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs146934311).
GeneDx	RCV000224909	SCV000171951	benign	not provided	2018-12-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 19700766, 24342716, 19438153, 20530761)
Eurofins Ntd Llc (ga)	RCV000035092	SCV000230845	benign	not specified	2015-04-09	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224909	SCV000280600	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
Invitae	RCV000233298	SCV000283512	benign	3-Methylglutaconic aciduria type 2	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245160	SCV000318443	benign	Cardiovascular phenotype	2015-11-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000339020	SCV000482025	likely benign	Endocardial fibroelastosis	2017-04-28	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.
Illumina Laboratory Services, Illumina	RCV000233298	SCV000482026	likely benign	3-Methylglutaconic aciduria type 2	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000289824	SCV000482027	likely benign	Primary dilated cardiomyopathy	2017-04-28	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.
Illumina Laboratory Services, Illumina	RCV000347300	SCV000482028	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Mendelics	RCV000233298	SCV001142101	benign	3-Methylglutaconic aciduria type 2	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224909	SCV004562749	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035092	SCV001918571	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224909	SCV001926262	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035092	SCV001959090	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035092	SCV001971677	benign	not specified		no assertion criteria provided	clinical testing