ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2015C>T (p.Ala672Val)

gnomAD frequency: 0.00004  dbSNP: rs376751517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262124 SCV002542475 uncertain significance Autoinflammatory syndrome 2021-06-24 criteria provided, single submitter clinical testing
Invitae RCV003495269 SCV004300554 uncertain significance Familial cold autoinflammatory syndrome 2 2023-07-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs376751517, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 672 of the NLRP12 protein (p.Ala672Val). 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: 1694402). 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV004546715 SCV005041079 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing

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