ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1384G>A (p.Ala462Thr)

gnomAD frequency: 0.00002  dbSNP: rs762512734
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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 RCV001209534 SCV001380974 uncertain significance Cryopyrin associated periodic syndrome 2022-09-09 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NLRP3 protein function. ClinVar contains an entry for this variant (Variation ID: 940032). This variant has not been reported in the literature in individuals affected with NLRP3-related conditions. This variant is present in population databases (rs762512734, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 464 of the NLRP3 protein (p.Ala464Thr).
Fulgent Genetics, Fulgent Genetics RCV005021508 SCV005652445 uncertain significance 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 2024-04-10 criteria provided, single submitter clinical testing

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