ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.494A>G (p.Asn165Ser) (rs199475733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000089306 SCV000278935 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing To our knowledge, the N165S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant. The N165S 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. It is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals; however, in silico analysis predicts this variant likely does not alter the protein structure/function. Missense variants in nearby residues R170Q have been reported in the Human Gene Mutation Database in association with cryoporin-associated periodic syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Human Evolutionary Genetics, Institut Pasteur RCV000089306 SCV000121787 untested not provided no assertion provided not provided Converted during submission to not provided.

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