ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg)

gnomAD frequency: 0.00001  dbSNP: rs578112440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002106 SCV001159953 uncertain significance not specified 2018-10-01 criteria provided, single submitter clinical testing The TNFRSF1A c.482A>G; p.Lys161Arg variant (rs578112440) variant, to our knowledge, is absent from the medical literature and gene-specific databases. This variant is found in the general population with an overall allele frequency of 0.004% (11/277190 alleles) in the Genome Aggregation Database. The lysine at this position is moderately conserved across species and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Considering available information, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001047147 SCV001211084 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001683721 SCV001900927 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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