ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) (rs147946775)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216458 SCV000278947 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000303538 SCV000356983 likely benign Familial amyloid nephropathy with urticaria AND deafness 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000626053 SCV000356984 likely benign Familial cold urticaria 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000263610 SCV000356985 likely benign Chronic infantile neurological, cutaneous and articular syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000216458 SCV000604552 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000552226 SCV000646267 likely benign Cryopyrin associated periodic syndrome 2019-12-31 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000626053 SCV000746675 uncertain significance Familial cold urticaria 2016-05-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216458 SCV000967262 likely benign not specified 2018-04-12 criteria provided, single submitter clinical testing The p.Ser728Gly variant is classified as likely benign because it has been ident ified in 0.08% (105/126674) of European chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs147946775). It has bee n reported in one individual with PFAPA, but was also identified in 2 unaffected family members (Perko 2015). ACMG/AMP Criteria applied: BS1.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172030 SCV001334959 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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