ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2213G>T (p.Arg738Ile)

gnomAD frequency: 0.00001  dbSNP: rs560050058
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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 RCV000806104 SCV000946085 uncertain significance Familial cold autoinflammatory syndrome 2 2022-11-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 650866). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 738 of the NLRP12 protein (p.Arg738Ile). This variant is present in population databases (rs560050058, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of NLRP12-related conditions (Invitae). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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