ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val)

dbSNP: rs121908149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091235 SCV001247145 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001225906 SCV001398200 likely pathogenic Cryopyrin associated periodic syndrome 2020-04-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Ala354 amino acid residue in NLRP3. Other variant(s) that disrupt this residue have been observed in individuals with NLRP3-related conditions (PMID: 26931528), which suggests that this may be a clinically significant amino acid residue. This variant has been reported to affect NLRP3 protein function (PMID: 19501000, 29322034). This variant has been observed to segregate with Muckle-Wells syndrome in a family and has been reported in unrelated individuals affected with cryopyrin-associated periodic syndrome (PMID: 11687797, 30431487, 21109514, 29047407). This variant is also known as p.Ala352Val in the literature. ClinVar contains an entry for this variant (Variation ID: 4373). This sequence change replaces alanine with valine at codon 354 of the NLRP3 protein (p.Ala354Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
OMIM RCV000004621 SCV000024795 pathogenic Familial amyloid nephropathy with urticaria AND deafness 2001-11-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084171 SCV000116302 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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