ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2360dup (p.Met787fs)

gnomAD frequency: 0.00001  dbSNP: rs768447330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320714 SCV001511510 uncertain significance Familial cold autoinflammatory syndrome 2 2023-03-10 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1021028). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs768447330, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Met787Ilefs*45) in the NLRP12 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NLRP12 cause disease.
Centogene AG - the Rare Disease Company RCV001320714 SCV002059410 likely pathogenic Familial cold autoinflammatory syndrome 2 2018-06-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001320714 SCV003815109 likely pathogenic Familial cold autoinflammatory syndrome 2 2022-02-21 criteria provided, single submitter clinical testing

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