Submissions for variant NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)

gnomAD frequency: 0.00036  dbSNP: rs104895260

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000083948	SCV001014257	likely benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2024-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000872445	SCV001148613	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TNFRSF1A: BP4, BP7
Illumina Laboratory Services, Illumina	RCV000083948	SCV001268765	uncertain significance	TNF receptor-associated periodic fever syndrome (TRAPS)	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.
GeneDx	RCV000872445	SCV001842088	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21724465)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262670	SCV002543100	likely benign	Autoinflammatory syndrome	2022-04-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000872445	SCV003800021	likely benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003258666	SCV003970205	likely benign	Inborn genetic diseases	2023-06-13	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.
PreventionGenetics, part of Exact Sciences	RCV003935075	SCV004760359	likely benign	TNFRSF1A-related disorder	2020-06-22	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).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083948	SCV000116064	not provided	TNF receptor-associated periodic fever syndrome (TRAPS)		no assertion provided	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000872445	SCV001931347	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000872445	SCV001975105	likely benign	not provided		no assertion criteria provided	clinical testing