Submissions for variant NM_022445.4(TPK1):c.98G>A (p.Arg33His)

gnomAD frequency: 0.00512  dbSNP: rs77358162

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125578	SCV000169030	benign	not specified	2014-01-18	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000422140	SCV000511640	likely benign	not provided	2016-12-13	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080813	SCV000652143	benign	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000422140	SCV002586205	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	TPK1: BP4, BS2
Fulgent Genetics, Fulgent Genetics	RCV001080813	SCV002807876	likely benign	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	2022-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002514673	SCV003546059	likely benign	Inborn genetic diseases	2022-09-19	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000422140	SCV005226881	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000422140	SCV000802874	benign	not provided	2017-07-13	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925247	SCV004743715	benign	TPK1-related disorder	2023-12-20	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).