Submissions for variant NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)

gnomAD frequency: 0.00135  dbSNP: rs143789597

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126198	SCV000169693	benign	not specified	2014-05-05	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	RCV000513951	SCV000609743	likely benign	not provided	2017-06-15	criteria provided, single submitter	clinical testing
Invitae	RCV000513951	SCV001042046	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145864	SCV001306567	uncertain significance	Mitochondrial DNA depletion syndrome 1	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001145864	SCV002049879	benign	Mitochondrial DNA depletion syndrome 1	2021-02-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513951	SCV002821141	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TYMP: BP4
PreventionGenetics, part of Exact Sciences	RCV003925249	SCV004737518	likely benign	TYMP-related disorder	2022-03-28	criteria provided, single submitter	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).