ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1845A>T (p.Lys615Asn) (rs876660973)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221193 SCV000278960 uncertain significance not provided 2013-10-27 criteria provided, single submitter clinical testing To our knowledge, the K615N 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. K615N represents a non-conservative amino acid substitution, as a positively-charged Lysine residue is replaced with a neutral, polar Asparagine residue. This substituion occurs at a position in the NRLP3 protein that his highly conserved among species; however it is not located in the NACHT/NBD domain, which is where the majority of disease-associated mutations are identified. Therefore, based on the currently available information, it is unclear whether K615N is a disease-causing mutation or a rare benign variant.

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