ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.84C>G (p.Phe28Leu)

gnomAD frequency: 0.00003  dbSNP: rs143182167
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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 RCV000698166 SCV000826810 uncertain significance Familial cold autoinflammatory syndrome 2 2018-04-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs143182167, ExAC 0.02%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NLRP12-related disease. This sequence change replaces phenylalanine with leucine at codon 28 of the NLRP12 protein (p.Phe28Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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