ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn)

gnomAD frequency: 0.00008  dbSNP: rs748314396
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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 RCV001222826 SCV001394944 uncertain significance Familial cold autoinflammatory syndrome 2 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 597 of the NLRP12 protein (p.Ser597Asn). This variant is present in population databases (rs748314396, gnomAD 0.004%). 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: 950998). 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 with a negative predictive value of 80%. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264232 SCV002542466 likely benign Autoinflammatory syndrome 2021-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032454 SCV004989655 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.1790G>A (p.S597N) alteration is located in exon 3 (coding exon 3) of the NLRP12 gene. This alteration results from a G to A substitution at nucleotide position 1790, causing the serine (S) at amino acid position 597 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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