ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.398G>A (p.Arg133Gln)

gnomAD frequency: 0.00001  dbSNP: rs104895257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083952 SCV002299154 uncertain significance TNF receptor-associated periodic fever syndrome (TRAPS) 2021-10-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TNFRSF1A protein function. ClinVar contains an entry for this variant (Variation ID: 97699). This variant is also known as R104Q. This missense change has been observed in individual(s) with clinical features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (PMID: 15492850, 23745996, 24295430, 24393624). This variant is present in population databases (rs104895257, ExAC 0.009%). This sequence change replaces arginine with glutamine at codon 133 of the TNFRSF1A protein (p.Arg133Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083952 SCV000116068 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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