ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2791G>T (p.Glu931Ter)

dbSNP: rs1404302953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688078 SCV000815675 pathogenic Familial cold autoinflammatory syndrome 2 2018-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu931*) in the NLRP12 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NLRP12-related disease. Loss-of-function variants in NLRP12 are known to be pathogenic (PMID: 18230725). For these reasons, this variant has been classified as Pathogenic.

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