ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.152A>G (p.His51Arg) (rs367663649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726996 SCV000704803 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000726996 SCV000618028 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing The H51R variant has been reported previosuly as a variant of uncertain significance in association with CAPS (Hernández-Rodríguez et al., 2015). The variant is observed in 1/10340 (0.01%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). H51R 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. 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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