ClinVar Miner

Submissions for variant NC_000019.9:g.(?_54310729)_(54318262_?)dup

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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 RCV004581102 SCV005063647 uncertain significance Familial cold autoinflammatory syndrome 2 2023-03-20 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 2-4 of the NLRP12 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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. 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 affected with NLRP12-related conditions.

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