ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1807_1814del (p.Gly603fs)

dbSNP: rs775762941
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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 RCV000813457 SCV000953817 uncertain significance Familial cold autoinflammatory syndrome 2 2024-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly603Profs*98) 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. This variant is present in population databases (rs775762941, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 656932). 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.

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