ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.1441_1449del (p.Ser481_Ile483del)

dbSNP: rs1687045453
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340309 SCV001534110 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2020-09-09 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with NLRC4-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1441_1449del, results in the deletion of 3 amino acid(s) of the NLRC4 protein (p.Ser481_Ile483del), but otherwise preserves the integrity of the reading frame.

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