ClinVar Miner

Submissions for variant NM_001065.3(TNFRSF1A):c.305G>A (p.Cys102Tyr) (rs1555108112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693373 SCV000821240 likely pathogenic TNF receptor-associated periodic fever syndrome (TRAPS) 2018-04-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 102 of the TNFRSF1A protein (p.Cys102Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate in several families affected with tumor necrosis factor receptor–associated periodic syndrome (TRAPS) (PMID: 22343913, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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