ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1894C>T (p.His632Tyr)

dbSNP: rs1600706886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001042 SCV001158158 uncertain significance Familial cold autoinflammatory syndrome 2 2019-02-07 criteria provided, single submitter clinical testing The NLRP12 c.1894C>T; p.His632Tyr variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at codon 632 is not highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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