ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.634G>A (p.Asp212Asn) (rs372038150)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220665 SCV000278954 uncertain significance not provided 2014-02-02 criteria provided, single submitter clinical testing To our knowledge, the D212N missense substitution has neither been published as a mutation, nor reported as a benign polymorphism. The D212N variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. D212N represents a semi-conservative amino acid substitution as a negatively-charged Aspartic Acid residue is replaced with a polar Asparagine residue. 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 D212N is a disease-causing mutation or a rare benign variant.

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