Submissions for variant NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)

gnomAD frequency: 0.00008  dbSNP: rs140751478

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154416	SCV000204084	likely benign	not specified	2012-08-10	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457435	SCV000554319	likely benign	3-Methylglutaconic aciduria type 2	2024-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000154416	SCV000718919	likely benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002460934	SCV002756027	likely benign	Cardiovascular phenotype	2019-09-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV003992201	SCV004810950	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TAFAZZIN: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV004551333	SCV004708801	likely benign	TAFAZZIN-related disorder	2019-06-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).