ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter)

dbSNP: rs762280260
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064228 SCV001229114 uncertain significance Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2019-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln219*) in the NLRC4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762280260, ExAC 0.001%). This variant has not been reported in the literature in individuals with NLRC4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NLRC4 cause disease. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264171 SCV002542425 uncertain significance Autoinflammatory syndrome 2021-10-09 criteria provided, single submitter clinical testing

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