ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2854G>A (p.Asp952Asn)

gnomAD frequency: 0.00008  dbSNP: rs140792345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816515 SCV000957028 uncertain significance Familial cold autoinflammatory syndrome 2 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 952 of the NLRP12 protein (p.Asp952Asn). This variant is present in population databases (rs140792345, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 659495). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002264014 SCV002542526 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing

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