Submissions for variant NM_001065.4(TNFRSF1A):c.1058-6C>G

gnomAD frequency: 0.00011  dbSNP: rs761155688

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000214797	SCV000279758	uncertain significance	not provided	2017-01-12	criteria provided, single submitter	clinical testing	The c.1058-6 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1058-6 C>G variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1058-6 C>G damages the natural splice acceptor site for intron 9, and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000705036	SCV000834015	likely benign	TNF receptor-associated periodic fever syndrome (TRAPS)	2024-01-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262829	SCV002543077	uncertain significance	Autoinflammatory syndrome	2020-06-04	criteria provided, single submitter	clinical testing