ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.957del (p.Thr320fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV002293382 SCV002586270 likely pathogenic Familial cold autoinflammatory syndrome 2 2022-08-17 criteria provided, single submitter clinical testing The variant c.957del (p.Thr320Argfs*8) in the NLRP12 gene creates a shift in the reading frame which is predicted to result in a premature stop codon 8 amino acids downstream, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). There is no information on frequency in gnomAD or 1000 Genomes Project. Another frameshift variant c.958_959insGCTTAATT (p.Thr320fs), which falls one nucleotide downstream the variant c.957del (p.Thr320Argfs*8), is reported as likely pathogenic in ClinVar (Variation ID: 1324811).

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