ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1330C>G (p.Gln444Glu)

gnomAD frequency: 0.00002  dbSNP: rs371528857
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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 RCV000645637 SCV000767387 uncertain significance Familial cold autoinflammatory syndrome 2 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 444 of the NLRP12 protein (p.Gln444Glu). This variant is present in population databases (rs371528857, gnomAD 0.002%). 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: 536925). 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.
Baylor Genetics RCV000645637 SCV001522054 uncertain significance Familial cold autoinflammatory syndrome 2 2019-03-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002530019 SCV003697622 uncertain significance Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing The c.1330C>G (p.Q444E) alteration is located in exon 3 (coding exon 3) of the NLRP12 gene. This alteration results from a C to G substitution at nucleotide position 1330, causing the glutamine (Q) at amino acid position 444 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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