ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln) (rs1553293095)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693681 SCV000821559 uncertain significance Cryopyrin associated periodic syndrome 2018-06-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 920 of the NLRP3 protein (p.Arg920Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate in families with cryopyrin-associated periodic syndromes (CAPS) and autosomal dominant deafness-34 (DFNA34) (PMID: 28847925). This variant is also known as p.Arg918Gln in the literature. ClinVar contains an entry for this variant (Variation ID: 446409). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000515640 SCV000611755 pathogenic DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 2017-11-28 no assertion criteria provided literature only

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