ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447665 SCV004175212 likely pathogenic Familial cold autoinflammatory syndrome 2 2023-03-02 criteria provided, single submitter clinical testing The NLRP12 c.2056_2057dup variant is classified as Likely Pathogenic (PVS1, PM2) This NLRP12 c.2056_2057dup variant is located in exon 3/10 and is predicted to cause a shift in the reading frame at codon 687 and the introduction of a premature termination codon 30 amino acids downstream (PVS1). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar, HGMD or the scientific literature to date.

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