ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2542G>C (p.Ala848Pro) (rs773376112)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000215504 SCV000278961 uncertain significance not provided 2014-09-23 criteria provided, single submitter clinical testing The A848P variant in the NLRP3 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A848P variant 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. A848P occurs at a position that is conserved among mammals and is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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