ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2431G>A (p.Gly811Ser) (rs141389711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218819 SCV000278948 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing The G811S variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G811S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, and was observed at a low frequency in individuals of Asian ancestry in the 1000 Genomes Project, indicating it is not a common benign variant in these populations. The G811S 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. This substitution occurs at a position that is moderately conserved across species. However, 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 mutation or a rare benign variant
Invitae RCV000218819 SCV001068391 likely benign not provided 2018-06-15 criteria provided, single submitter clinical testing

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