ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.298C>T (p.Arg100Cys) (rs375013904)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222482 SCV000279517 uncertain significance not provided 2015-11-04 criteria provided, single submitter clinical testing To our knowledge, the R100C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant. It was observed at a frequency of .01%, 1/8600 alleles, in individuals of European American ancestry by the NHLBI Exome Sequencing Project. The R100C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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