ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2188dup (p.Val730fs)

dbSNP: rs771632319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945128 SCV002180204 uncertain significance Familial cold autoinflammatory syndrome 2 2022-06-20 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. This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is present in population databases (rs771632319, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Val730Glyfs*41) 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264426 SCV002542488 uncertain significance Autoinflammatory syndrome 2020-01-01 criteria provided, single submitter clinical testing

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