ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.195G>A (p.Ala65=)

dbSNP: rs201205620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420668 SCV000528348 likely benign not specified 2016-06-25 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000420668 SCV001157779 likely benign not specified 2018-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063350 SCV002461007 likely benign Cryopyrin associated periodic syndrome 2024-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488938 SCV002795745 likely benign Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 2022-01-04 criteria provided, single submitter clinical testing

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