ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)

dbSNP: rs774895361
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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 RCV000627083 SCV004298442 uncertain significance Familial cold autoinflammatory syndrome 2 2023-07-12 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 sequence change creates a premature translational stop signal (p.Trp408*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial cold autoinflammatory syndrome (PMID: 27314497). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 523656).
OMIM RCV000627083 SCV000747893 pathogenic Familial cold autoinflammatory syndrome 2 2018-05-15 no assertion criteria provided literature only

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