ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser)

dbSNP: rs104895223
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000013135 SCV001237279 pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) 2020-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys59 amino acid residue in TNFRSF1A. Other variant(s) that disrupt this residue have been observed in individuals with TNFRSF1A-related conditions (PMID: 11722598, 15216558, 18408954, 10199409), which suggests that this may be a clinically significant amino acid residue. This variant has been reported to affect TNFRSF1A protein function (PMID: 16684962). This variant has been observed in several individuals and families affected with TNF receptor-associated periodic syndrome (TRAPS) (PMID: 10902757, 20576331, 11443543). This variant is also known as p.C30S in the literature. ClinVar contains an entry for this variant (Variation ID: 12342). This variant is present in population databases (rs104895223, ExAC 0.01%). This sequence change replaces cysteine with serine at codon 59 of the TNFRSF1A protein (p.Cys59Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine.
OMIM RCV000013135 SCV000033382 pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) 2001-08-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000013135 SCV000116013 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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