ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.1307A>G (p.Asp436Gly)

gnomAD frequency: 0.00001  dbSNP: rs1243645113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001905100 SCV002129587 uncertain significance TNF receptor-associated periodic fever syndrome (TRAPS) 2023-08-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1363820). This variant has not been reported in the literature in individuals affected with TNFRSF1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 436 of the TNFRSF1A protein (p.Asp436Gly).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264405 SCV002543086 uncertain significance Autoinflammatory syndrome 2021-04-16 criteria provided, single submitter clinical testing

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