ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2790A>C (p.Lys930Asn) (rs876660975)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219402 SCV000278965 uncertain significance not provided 2013-12-05 criteria provided, single submitter clinical testing To our knowledge, the K930N missense substitution has neither been published as a mutation, nor has it been reported as a benign polymorphism. This substitution was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. K930N represents a non-conservative amino acid substitution as a positively-charged Lysine residue is replaced with a neutral, polar Asparagine residue. This substitution occurs at a position in the NLRP3 protein that is highly conserved among species; however, it is not located in the NACHT/NBD domain, which is the domain where nearly all NLRP3 disease-associated mutations have been identified. Therefore, based on the currently available information, it is unclear whether K930N is a disease-causing mutation or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000763849 SCV000894779 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria; DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 2018-10-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000219402 SCV000928135 uncertain significance not provided 2018-12-20 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197561 SCV001368340 uncertain significance Neutropenia; Leukopenia 2019-10-16 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BP1. This variant was detected in heterozygous state.

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