ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1A>T (p.Met1Leu)

dbSNP: rs1386409873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348316 SCV001542616 uncertain significance Familial cold autoinflammatory syndrome 2 2020-01-13 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 with NLRP12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the NLRP12 mRNA. The next in-frame methionine is located at codon 48.
GeneDx RCV001553069 SCV001773872 likely pathogenic not provided 2022-03-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264275 SCV002542474 uncertain significance Autoinflammatory syndrome 2020-01-01 criteria provided, single submitter clinical testing

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