ClinVar Miner

Submissions for variant NC_000019.9:g.(?_54307186)_(54327428_?)del

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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 RCV004581098 SCV005063643 uncertain significance Familial cold autoinflammatory syndrome 2 2023-05-29 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. This variant has not been reported in the literature in individuals affected with NLRP12-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-6 of the NLRP12 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NLRP12 cause disease.

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