ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)

gnomAD frequency: 0.00004  dbSNP: rs537715421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391766 SCV001593395 likely benign Cryopyrin associated periodic syndrome 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531201 SCV004113397 uncertain significance NLRP3-related disorder 2023-06-02 criteria provided, single submitter clinical testing The NLRP3 c.226G>A variant is predicted to result in the amino acid substitution p.Ala76Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.071% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-247582322-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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