ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.342A>G (p.Glu114=) (rs1064796501)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482231 SCV000573288 uncertain significance not provided 2017-02-17 criteria provided, single submitter clinical testing The c.342 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is synonymous and does not change the Glutamic acid at residue 114. However, the variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). While this variant occurs at a position that is conserved in mammals, in silico analysis predicts this variant likely does not affect splicing. In summary, 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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