ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.536C>T (p.Thr179Ile)

gnomAD frequency: 0.00011  dbSNP: rs145156267
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559730 SCV000646336 uncertain significance Familial cold autoinflammatory syndrome 2 2025-01-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 179 of the NLRP12 protein (p.Thr179Ile). This variant is present in population databases (rs145156267, gnomAD 0.02%). This missense change has been observed in individual(s) with an inflammatory syndrome (PMID: 30788684). ClinVar contains an entry for this variant (Variation ID: 469095). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
GeneDx RCV001764578 SCV001998355 uncertain significance not provided 2019-11-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in an individual and her similarly affected daughter with abdominal pain, fever, diarrhea, skin rash, hypothyroidism, and elevated 5-hydroxyindoleacetic acid (Jacob et al., 2019); This variant is associated with the following publications: (PMID: 30788684)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263785 SCV002542551 uncertain significance Autoinflammatory syndrome 2021-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000559730 SCV002777839 uncertain significance Familial cold autoinflammatory syndrome 2 2022-04-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001764578 SCV005409994 uncertain significance not provided 2024-03-12 criteria provided, single submitter clinical testing BP4

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