Submissions for variant NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)

gnomAD frequency: 0.00574  dbSNP: rs4149637

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705299	SCV000292693	benign	not provided	2019-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16569687, 24393624, 11443543, 27872575, 21420073, 20981092, 23894535, 24233262, 27884173)
Illumina Laboratory Services, Illumina	RCV000534430	SCV000380682	likely benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705299	SCV000605405	benign	not provided	2022-10-25	criteria provided, single submitter	clinical testing
Invitae	RCV000534430	SCV000637235	likely benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000534430	SCV001138635	benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2019-05-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262855	SCV002542620	uncertain significance	Autoinflammatory syndrome	2022-04-19	criteria provided, single submitter	clinical testing