ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1391_1408del (p.Leu464_Leu469del)

dbSNP: rs2122665998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262115 SCV002542449 uncertain significance Autoinflammatory syndrome 2022-03-01 criteria provided, single submitter clinical testing
Invitae RCV003495267 SCV004299924 uncertain significance Familial cold autoinflammatory syndrome 2 2023-08-27 criteria provided, single submitter clinical testing This variant, c.1391_1408del, results in the deletion of 6 amino acid(s) of the NLRP12 protein (p.Leu464_Leu469del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694393). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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