ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2440G>A (p.Gly814Arg)

gnomAD frequency: 0.00008  dbSNP: rs149903344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814873 SCV000955306 uncertain significance Familial cold autoinflammatory syndrome 2 2021-10-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 814 of the NLRP12 protein (p.Gly814Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs149903344, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264009 SCV002542503 uncertain significance Autoinflammatory syndrome 2019-02-01 criteria provided, single submitter clinical testing

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