ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)

dbSNP: rs201619538
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000967625 SCV000414511 benign Familial cold autoinflammatory syndrome 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000967625 SCV001115016 benign Familial cold autoinflammatory syndrome 2 2024-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000967625 SCV001472307 uncertain significance Familial cold autoinflammatory syndrome 2 2019-10-21 criteria provided, single submitter clinical testing The NLRP12 c.3088C>G; p.Arg1030Gly variant (rs201619538) to our knowledge, is not reported in the medical literature or gene specific databases. The variant is reported in the ClinVar database (Variation ID: 330000) and in the South Asian population with an allele frequency of 0.6% (176/30604 alleles) in the Genome Aggregation Database. The arginine at codon 1030 is weakly conserved and computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg1030Gly variant is uncertain at this time.
GeneDx RCV001764298 SCV001990871 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263049 SCV002542541 likely benign Autoinflammatory syndrome 2021-04-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001764298 SCV002822597 benign not provided 2023-06-01 criteria provided, single submitter clinical testing NLRP12: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003912380 SCV004730752 likely benign NLRP12-related disorder 2024-01-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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