ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp)

gnomAD frequency: 0.00001  dbSNP: rs758607519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798644 SCV000938270 uncertain significance Familial cold autoinflammatory syndrome 2 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 181 of the NLRP12 protein (p.Arg181Trp). This variant is present in population databases (rs758607519, 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: 644675). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Illumina Laboratory Services, Illumina RCV000798644 SCV001295469 benign Familial cold autoinflammatory syndrome 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263989 SCV002542554 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing

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