ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1705G>A (p.Glu569Lys)

gnomAD frequency: 0.00002  dbSNP: rs753099958
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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 RCV000687765 SCV000815351 uncertain significance Familial cold autoinflammatory syndrome 2 2018-05-09 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55". The lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with NLRP12-related disease. This variant is present in population databases (rs753099958, ExAC 0.002%). This sequence change replaces glutamic acid with lysine at codon 569 of the NLRP12 protein (p.Glu569Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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