ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.472+1G>A

dbSNP: rs104895287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV000083957 SCV004037284 likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) 2021-07-19 criteria provided, single submitter clinical testing This variant is predicted to disrupt the exon/intron 4 splice donor of TNFRSF1A. It has been described in the literature in a symptomatic proband and his also affected mother and was also functionally characterized (PMID: 18086728, 29467762): study data suggest this variant leads to an in-frame aberrant splicing resulting in deletion of Cys185 and insertion of 15 additional amino acids. The variant is also present in gnomAD once. Infevers classifies it as likely pathogenic. Internal data: heterozygous in a proband with suspected hereditary periodic fever syndrome. We classify it as likely pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083957 SCV000116073 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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