Submissions for variant NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)

gnomAD frequency: 0.00236  dbSNP: rs201683984

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000638836	SCV000380674	uncertain significance	TNF receptor-associated periodic fever syndrome (TRAPS)	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000638836	SCV000760388	benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001683245	SCV001157169	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001683245	SCV001899355	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262968	SCV002543079	likely benign	Autoinflammatory syndrome	2022-01-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001683245	SCV004132428	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TNFRSF1A: BP4, BP7, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001683245	SCV001931928	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001683245	SCV001975736	likely benign	not provided		no assertion criteria provided	clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	RCV000638836	SCV002029158	likely benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2021-08-27	no assertion criteria provided	clinical testing