ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.749A>G (p.Gln250Arg) (rs876660971)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217305 SCV000278956 uncertain significance not provided 2014-02-02 criteria provided, single submitter clinical testing To our knowledge, the Q250R missense substitution has neither been published as a mutation, nor 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. Q250R represents a semi-conservative amino acid substitution as a polar Glutamine residue is replaced with a positively-charged Arginine residue. However, the position in the NLRP3 protein where this substitution occurs is not highly conserved among species. Therefore, based on the currently available information, it is unclear whether Q250R is a disease-causing mutation or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000374935 SCV000356930 uncertain significance Familial amyloid nephropathy with urticaria AND deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282886 SCV000356931 uncertain significance Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340287 SCV000356932 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome 2016-06-14 criteria provided, single submitter clinical testing

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