ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg)

dbSNP: rs554602951
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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 RCV000645651 SCV000767402 benign Familial cold autoinflammatory syndrome 2 2023-12-28 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000645651 SCV000898851 uncertain significance Familial cold autoinflammatory syndrome 2 2021-11-23 criteria provided, single submitter clinical testing NLRP12 NM_144687 exon 4 p.Gly736Arg (c.2206G>A): This variant has not been reported in the literature but is present in 0.5% (176/30774) of South Asian alleles, including 3 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs554602951). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263889 SCV002542489 likely benign Autoinflammatory syndrome 2022-01-25 criteria provided, single submitter clinical testing

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