ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Asp122_Thr123insAlaArgHisArg) (rs1592047560)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MedGen Diagnostic Laboratory,MedGen Medical Centre RCV000984328 SCV000999195 pathogenic CHARGE association 2019-11-13 no assertion criteria provided clinical testing Heterozygous of this TNFRSF1A variant fulfilling the clinical criteria for TRAP syndrome (TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME, Clinical presentation with periodic fever (childhood) or chronic inflammation (adult), AA amyloidosis (kidneys) accompanied by markedly elevated inflammatory markers (CRP, SAA).

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