ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)

dbSNP: rs104895570
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283785 SCV000414519 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560378 SCV000646333 benign Familial cold autoinflammatory syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000560378 SCV000743600 benign Familial cold autoinflammatory syndrome 2 2016-07-06 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000560378 SCV000744915 likely benign Familial cold autoinflammatory syndrome 2 2017-06-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000560378 SCV001157664 benign Familial cold autoinflammatory syndrome 2 2023-10-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084148 SCV001502268 benign not provided 2024-04-01 criteria provided, single submitter clinical testing NLRP12: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262684 SCV002542525 benign Autoinflammatory syndrome 2022-02-08 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000560378 SCV003920282 uncertain significance Familial cold autoinflammatory syndrome 2 2021-03-30 criteria provided, single submitter clinical testing NLRP12 c.2833C>A Heterozygous. Heterozygous missense mutations of this gene can cause Familial cold autoinflammatory syndrome 2. The identified heterozygous variant is predicted to be a synonymous substitution with no change in the amino acid sequence but may have an unknown effect on splicing. This variant has not been reported in the literature and has rarely been reported in publicly available databases of healthy individuals. Therefore, the clinical significance of this heterozygous variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003915109 SCV004734233 benign NLRP12-related disorder 2019-04-05 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084148 SCV000116279 not provided not provided no assertion provided not provided

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