ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.35G>A (p.Arg12His)

gnomAD frequency: 0.00003  dbSNP: rs376754003
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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 RCV001205752 SCV001377025 uncertain significance Familial cold autoinflammatory syndrome 2 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 12 of the NLRP12 protein (p.Arg12His). This variant is present in population databases (rs376754003, gnomAD 0.01%). 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: 936855). 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.
Undiagnosed Diseases Network, NIH RCV001205752 SCV001432160 uncertain significance Familial cold autoinflammatory syndrome 2 2017-02-22 criteria provided, single submitter clinical testing

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