ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2494C>A (p.Leu832Ile) (rs114158404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222351 SCV000278949 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing To our knowledge, the L832I missense substitution has neither been published as a pathogenic variant, nor reported as a benign variant. Per the 1000 Genomes Database, L832I was observed at a frequency of 0.8%, 8/1332 alleles, in individuals of African ancestry including 1.8%, 3/170 alleles, in individuals of Mende ancestry. The L832I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001085246 SCV000767329 likely benign Cryopyrin associated periodic syndrome 2019-12-31 criteria provided, single submitter clinical testing

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