ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro)

dbSNP: rs777108086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370362 SCV000414509 benign Familial cold autoinflammatory syndrome 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000370362 SCV001484747 uncertain significance Familial cold autoinflammatory syndrome 2 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 1051 of the NLRP12 protein (p.Arg1051Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs777108086, ExAC 0.04%). This variant has not been reported in the literature in individuals with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 329998). 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: "Probably 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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