ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.152A>G (p.His51Arg)

dbSNP: rs104895289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004589549 SCV005079172 uncertain significance not provided 2024-05-20 criteria provided, single submitter clinical testing Reported in the InFevers database in association with TRAPS; however, no specific information on the patient is available (PMID: 21153350); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as p.H22R; This variant is associated with the following publications: (PMID: 21153350)
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083900 SCV000116006 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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