ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.343T>C (p.Ser115Pro)

dbSNP: rs104895226
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002251432 SCV002522001 uncertain significance not provided 2021-12-22 criteria provided, single submitter clinical testing 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.(S86P); This variant is associated with the following publications: (PMID: 11443543)
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083946 SCV000116059 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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