ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2817C>T (p.Pro939=) (rs545121784)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658559 SCV000780335 likely benign not provided 2017-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000658559 SCV000884265 likely benign not provided 2018-06-11 criteria provided, single submitter clinical testing The NLRP3 c.2817C>T; p.Pro939Pro variant (rs545121784), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is reported in the Genome Aggregation Database in 2 out of 277,236 alleles, indicating it is not a common polymorphism. This is a synonymous variant, the nucleotide at this position is weakly conserved across species, and computational algorithms predict this variant does not alter mRNA splicing (Alamut v.2.11). Considering available information, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825793 SCV000967261 likely benign not specified 2018-02-14 criteria provided, single submitter clinical testing p.Pro939Pro in exon 9 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and splice prediction algorithms do not predict a newly created splice site. It has been identified in 1/24034 African chromosom es and by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs545121784). ACMG/AMP Criteria applied: BP4; BP7.

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