ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln)

gnomAD frequency: 0.00010  dbSNP: rs144936138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695321 SCV000823813 uncertain significance Familial cold autoinflammatory syndrome 2 2022-10-25 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NLRP12 protein function. ClinVar contains an entry for this variant (Variation ID: 573609). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs144936138, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 79 of the NLRP12 protein (p.Arg79Gln).
CeGaT Center for Human Genetics Tuebingen RCV001726305 SCV001962219 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001726305 SCV002003818 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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