ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.3181T>G (p.Cys1061Gly)

gnomAD frequency: 0.00001  dbSNP: rs1345613811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061190 SCV001225923 uncertain significance Familial cold autoinflammatory syndrome 2 2019-11-25 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NLRP12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 1061 of the NLRP12 protein (p.Cys1061Gly). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and glycine.

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